. . . (this) seems to show that the chromosomal substance, the chromatin, is to be regarded as the physical basis of inheritance. Now, chromatin is known to be closely similar to, if not identical with, a substance known as nuclein, which analysis shows to be a tolerably definite chemical compound composed of nucleic acid and albumin. And thus we reach the remarkable conclusion that inheritance may perhaps be affected by the physical transmission of a particular chemical compound from parent to offspring.
—E. B. Wilson (1895)
American cytologist
In 1678 a Dutch scientist, Anton Philips van Leeuwenhoek (1632–1723 AD), reported to the Royal Society on the discovery of human spermatozoa, which resembled myriads of worm-like animals. He wrote, “What I investigate is only what, without sinfully defiling myself, remains as a residue of conjugal coitus. And if your Lordship should consider that these observations may disgust or scandalize the learned, I earnestly beg your Lordship to regard them as private and to publish or destroy them as your Lordship thinks fit.”
The Early Research to Understand Chromosomes and Our Genetic Inheritance
Van Leeuwenhoek eventually postulated that the microscopic creatures (sperm) swimming in semen played a role in fertilization. Other scientists of the day proposed that the sperm were simply parasites and had nothing to do with reproduction.
Around 1677 van Leeuwenhoek and one of his students, Johan Ham, had employed a 300-power microscope to examine semen. He referred to the sperm in the semen as “animalcules” or “little animals,” supportive of his belief of the theory of preformation, which postulated that the head of the sperm contained a tiny, fully formed human.
A Dutch microscopist, Nicolaas Hartsoeker, claimed that he had seen spermatozoa in 1674. However, he was unsure of his findings and believed that the sperm were parasites. His famous drawing of a homunculus, or little human, packed into the head of the sperm, supported the preformation theory. Hartsoeker never claimed to have in fact seen homunculi, although others did claim they had seen them.
Some investigators of the times theorized that homunculi in a sperm might have smaller sperm of their own—in other words, a homunculi within a homunculi. When investigators began to observe how internal organs in animals such as chicks and human embryos gradually appeared during the development of an embryo it was clear that preformation did not occur.
Today we are fully aware that the sperm cell in humans contains 23 chromosomes (the thread-like carriers of genes and genetic information) that penetrate the female ovum that contains its own 23 chromosomes, thus forming a 46 chromosome fertilized zygote.
In 1866 Ernst von Haeckel postulated that the nuclei, a universal structure found in each cell, was in fact the “transmitter of inheritance.” In 1869 a Swiss chemist by the name of Friedrich Miescher isolated a material from the nuclei of pus (dead white blood cells) that he called “nuclein.” Miescher chose pus, which he obtained from local hospitals, because white blood cells have large nuclei and minimal amounts of cytoplasm.
In 1889 it was discovered that nuclein contained a protein that could be digested, leaving a sticky acidic gel residue—nucleic acids had been discovered!
In 1893 a student of Miescher, Albrecht Kosel, analyzed the acidic gel (nucleic acids) and showed that it was a mix of phosphorous, sugar, and a blend of four different nitrogen-containing substances that he identified as adenine, cytosine, guanine, and thymine: A, C, G, and T.
The German cytologist Walther Flemming is credited with the discovery of mitosis in 1879. Flemming had created a new staining technique that allowed him to identify and observe chromosomes in greater detail. As a result he was able to observe cell division, considered to be one of the great scientific discoveries of all time.
In 1873 Anton Schneider observed and reported the presence of “chromosomes” in dividing cells. In making these observations Schneider accurately noted that the chromosome filaments line up on the equator of the cell, double, and divide into the “daughter cells.” This was the first observation and reporting of the process of mitosis.
In 1884, after the death of Mendel, the concept of inheritance dominated the scientific arena. Von Nageli talked about the “idioplasm,” Weismann talked about the “germ plasm,” Darwin talked about the “gemmules,” and de Vries talked about the “pangenes.”
Except for sex cells (sperm and ova), all cells—those responsible for growth, development and cellular repair—divide by mitosis. Sex cells divide by meiosis, which was explained by the great German biologist August Weismann in 1890.
In 1902 a German biologist, Theodor Boveri, and an American geneticist and physician, Walter Sutton, independently identified chromosomes as the carrier of genetic information.
While studying sea urchins, Boveri observed that the sperm and the egg each carried half of the set of chromosomes. If the sperm and egg that became a fertilized embryo had an abnormal number of chromosomes, the resulting embryo would die or develop into an abnormal sea urchin. Boveri correctly surmised that that different chromosomes control different parts of the urchin’s anatomy or physiology.
Sutton’s studies of grasshoppers clearly demonstrated that the matched pairs of chromosomes separate during the production of sex cells (sperm and egg).
Boveri and Sutton both reported that chromosomes carry and transmit parental genetic information. They additionally showed that chromosomes were independent structures that remained intact, even when they were not visible, during all stages of the cells life. These observations were counter to the prevailing thought that chromosomes dissolved during the latter stages of cell division and then reformed again in the daughter cell.
The research of Boveri and Sutton provided the foundation for the new scientific field of “cytogenetics,” the combining of cytology (the study of cells) and genetics (the study of heredity).
Thomas Hunt Morgan’s Fruit Fly Lab: Our Understanding of the Process that Creates Chromosomal Characteristics
It is well documented today that during the formation of the sperm and egg, matching chromosomes of parents can exchange small incomplete segments of chromosomes in what is called, “crossover,” so that newly formed chromosomes might not be inherited perfectly duplicated from each parent. Incorrect numbers of chromosomes or imperfectly formed chromosomes will result in an inability of the embryo to survive or a malformed embryo. These events of embryonic death and the malformations that can result, for instance in trisomy, known as Down syndrome characterized by 47 chromosomes, are typically and quite incorrectly said to be “genetically transmitted.”
These events are in fact not the result of a genetically-transmitted defect, but rather a specific nutrient deficiency of the functioning chromosome in the moments immediately after fertilization.
It is thought that no scientist spent more time looking at fruit flies through a microscope than American biologist Thomas Hunt Morgan. Morgan’s laboratory, fondly referred to as the “fly room,” was a simple 368 square foot room stuffed with eight students, desks, and hundreds of glass milk bottles full of fruit flies, and piles of overripe bananas hung from the ceiling as fly food: “the room literally stunk of decomposing bananas and hummed with escaped fruit flies and crackled with stow away cockroaches.” Between 1910 and 1930, this overpopulated laboratory was the incubator of some of the most significant scientific discoveries of all time— discoveries that are basic to the interpretation of the field of modern genetics.
Calvin Bridges and Alfred Sturtevant were both undergraduate students at Columbia University in New York City in 1909. After attending a lecture presented by Morgan, both Bridges and Sturtevant were awarded desks in the fly room. Gregor Mendel’s observations on pea plants had just been rediscovered, and this was a heady time for genetic research.
Fruit flies made a perfect study animal with which investigate the latest theories, and the fly-room crew spent many hours sharing and discussing their research and current publications. Following one of their discussions, Sturtevant rushed home to flesh-out a new thought: a map of the genes on the X chromosome. Sturtevant constructed his chromosome map (still accurate yet today) at 20 years of age. Bridges at the age of 24 went on to report the nondisjunction of fly chromosomes, thus proving that Morgan’s theory of chromosomal inheritance was in fact correct.
In 1910 Morgan observed a single white-eyed fly among his red-eyed specimens. He ran a series of breeding experiments in order to study how this mutation would be transmitted to come to a similar observation of that of Mendel, who recognized pink pea flowers were a “hybrid” resulting from “crossbreeding” of white and red flowered pea plants.
Morgan was awarded the 1933 Nobel Prize in medicine for his work with chromosomes and heredity. Morgan learned that the white-eyed trait was recessive since a single red-eyed parent invariably resulting in red-eyed offspring. He also theorized that the mutation was located on the X chromosome since only males (with no second chromosome to counteract the white-eyed form of the gene) displayed the characteristic.
Morgan had discovered that specific genes are carried on specific chromosomes. He was building on work pioneered by American geneticist Walter Sutton and German biologist Theodor Boveri, who in 1902 independently arrived at the conclusion that chromosomes carry genetic material. These observations were essential milestones in the understanding of inheritance and genetics.
The Use of Our Knowledge of Genetics for “Social Engineering”: Francis Galton Establishes Eugenics
Genetics wasn’t limited or confined to a chemical laboratory. It came to be used as a tool for social engineering. Social Darwinism (neo-Darwinism) swept the globe.
Eugenics (“well born”), the concept of an individual’s superiority or inferiority was based on an inheritance of intelligence or leadership traits meant that a person could receive a social mutation, was conceived by Francis Galton, Charles Darwin’s cousin and a contemporary of Mendel. These ideas came to a functional level concurrently with the work of Morgan as he mapped the locations of the genes on the chromosomes and Beadle and Tatum had revealed that genes made enzymes.
Similar to his cousin Charles, Galton failed to exhibit much talent in his younger years. Galton quit medical school and chose to travel through Europe for years until he returned to England and Cambridge to pursue studies in math.
Galton suffered from what was referred to as a nervous breakdown and left school before he finished his degree. For a short time he returned to medical school. However, upon his father’s death Galton received a considerable fortune and chose to abandon medical school a second time.
Galton developed an obsession with the measurements of humans, math, and a belief that “he was a superior person and that this superiority was inherited.” He viewed the publication in 1859 of his cousin’s work, On the Origin of Species by Natural Selection, as the “formative event in his life,” and it influenced the invention of the “science” he called “eugenics” in 1885.
In 1869 Galton published his book titled Hereditary Genius, the first scientific work to study the relationship between genius and greatness. It documented his view that civilization, while desirable, inevitably led to an increase in the “unfit” people by preventing the forces of nature from eliminating the weak, mentally ill, and those deemed to be “undesirable.”
Galton felt it was ultimately counterproductive to the survival of man to improve the environment by introducing factory safety and pollution laws, or by providing good sanitation, or enacting laws to help the poor, or by building hospitals, thinking governments had failed to encourage the birth of babies with superior minds and bodies and additionally failed to proactively prevent the birth of the weak.
In the 1870s Galton postulated that inheritance is facilitated by a “particulate,” but Galton’s observations were primarily based on continuous variations instead of discontinuous variation that was the classic Mendelian theory.
Galton’s first “law” was that the offspring of exceptional parents “revert to the mean.”
Galton’s second “law” of inheritance stated that children have one-half of each parent’s “heritage,” and therefore, “on average, one-quarter of each grandparent’s heritage, one eighth of each great-grandparent’s heritage, and so on.”
Galton’s main direction was to promote the idea of human talents, especially human intelligence, and it was in the course of his research that he coined the term “eugenics.”
It was obvious to Galton that humans have inheritable traits the same way that plants and animals do. Some traits are desirable and some others are not desirable. It was his theory that it would be possible to have the “better” genetic types to reproduce and force the “poorer” individuals to stop reproducing. The result would be that the human genetic pool would improve over time in the same manner that beef cattle and dogs have been improved over the decades through selective breeding.
Galton is the one who also coined the term “nature and nurture” in 1871 to describe how the environment could affect the inheritance of our intelligence and abilities. In 1875 Galton developed the idea of using identical twins to study the influence of heredity versus environment on human development and intelligence. His claim that his evidence revealed that the nature rather than the nuture of an individual has the most influenence on human development began the famous controversies over these ideas that are still researched and debated today.
A modern researcher of identical twins, Danielle Reed, who is following in Galton’s footsteps by her choice of twin studies to examine the theories of “nature and nuture” (see National Geographic, January 2012), states that, “It is very clear when you look at (identical) twins that much of what they share is hardwired. Many things about them are absolutely the same and unalterable. But it is also clear, when you get to know them, that other things about them are different. Epigenetics is the origin of a lot of those differences.”
Reed further states that, “Mother Nature writes some things in pencil and some things in pen . . . Things written in pen you can’t change. That’s DNA. But things written in pencil you can. That’s epigenetics.”
In 1907 Galton’s theories spawned the Eugenics Education Society in Britain with the advertised goal of genetic improvement of the human population of Britain by selective breeding as it is practiced in livestock. Galton was elected to the society’s presidency in1908.
It was Galton who recruited the very well-respected statistical genius, Karl Pearson, who became Galton’s protégé and proponent of eugenics. Pearson, expanded on Galton’s theories of human measurements and created the Biometric Laboratory at University College, London. “Biometrics” was then merged with eugenics.
Pearson became a fanatic about human measurement of inferior races of people from poor stock and applied his theories of Social Darwinism about the need to increase the strong person versus the weak individual that could not be improved by applying national policies to ensure this. He created an ongoing journal Biometrika to develop statistical theory. And the journal contained many of his tables of human measurements for statisticians that were very influential, especially in the United States.
Galton was personally “terrified” by the growing financial power of Germany and wanted to neutralize it by creating a national program of “selective breeding.” Embracing Galton’s “neologism,” Pearson coined the term “eugenic marriage” and demanded that the British government create a national biographical studbook of “desirables” and “undesirables” and require a permit of proof of individual fitness before a marriage license would be issued. Darwin publically approved of Galton’s theories and his book about the influence of nature over nuture as far as an individual’s intelligence.
In 1911 Galton was named the first Galton Professor of Eugenics (changed to Professor of Genetics in 1965) at London University. Galton’s efforts never reached the level of legislative power in Britain. However, in the United States Andrew Carnegie and John D. Rockefeller believed that eugenics could “enable humanity to command its own evolution in a way that was efficient and progressive.” In 1904 the Carnegie Institute founded a center for genetic research at Cold Spring Harbor, New York, with Charles Davenport appointed to the directorship.
Davenport directed his efforts to the study of human inheritance, and in 1910, with the financial backing of the Harriman and Rockefeller family trusts, he created the Eugenics Record Office at Cold Spring Harbor and appointed Harry Laughlin as the facilities first superintendent.
At the same time, Henry Goddard, a psychologist, introduced the Binet intelligence test into the United States. This test gave the eugenics movement a way to quantify human intelligence and measure and identify what was a “moron,” “imbecile,” and “idiot.”
Goddard’s studies showed that, “the devil of genetic unfitness was at work within the U.S.” Many came to believe the only option was to prevent the breeding of the perceived unfit. By 1931 twenty-seven American states had enacted sterilization laws that would allow compulsory sterilization of selected types of people categorized as morons and the feeble-minded. As a result, by 1941 almost thirty-six thousand Americans had been forcibly sterilized. Within a few years Germany, Switzerland, and the Scandinavian countries all enacted sterilization laws.
In 1906 the Race Betterment Foundation was created in Michigan by J.H. Kellogg to promote “racial improvement.”
The Theories of Social Darwinism Take Hold and “Dysgenics” Takes Over Eugenics
Social Darwinism developed in many ways, but eugenics failed as a “science” and had minimal impact in the creation of national fitness registers and studbooks. However, the appearance of “dysgenics,” thought of as a sister science of eugenics, which embraced the elimination (the equivalent of the animal husbandry technique of “culling” the less desirable examples of a breeding line) of the unhealthy, surprised almost everyone by its rapid acceptance by the medical and the bureaucratic institutions.
At the same time that Avery was studying bacteria, the pursuit of human genetic research in Germany took on a nasty direction. In 1905 the Society for Racial Hygiene was founded by Alfred Ploetz. Initially the society was not a racist organization as Ploetz “applauded the Jewish race as being equal to the Nordic.”
In the meantime Darwin’s works encouraged the pursuit of imperialism, the establishment of colonies, the “race for Africa” and Rhodes’ belief that England should be “painting the map of the world red.”
Driven by Darwin’s concept of the “survival of the fittest” Britain grabbed 3.5 million square miles of colonies and 1.5 million miles of protectorates. During the same period, additional nations, driven by a fear that Britain would own the world and squeeze them financially with duties and taxes, began their own drive to grab colonies and to develop their own “master race.” The Russians, the French, the Japanese, and the Germans aggressively jumped into the race for colonies.
The most highly-respected German Darwinian biographer and historian, Heinrich von Treitschke, designed an aggressive view of Germany’s history and predicted a triumphant future; and at the same time, Bismarck, himself, created a national imperialistic plan for Germany and coined the Darwinian slogan “Blood and Iron” to encourage his armies.
Additionally, the Darwinian theory of “the survival of the fittest” created a drive to improve national “racial stock” by employing positive and negative plans. Darwin was also opposed to vaccinations and medical programs that would maintain populations of “weaker” people. He promoted their birth control, and he viewed the reduction or extinction of “aboriginals” in Argentina, New Zealand, and Australia by the “stronger races” as natural and acceptable. Darwin predicted and accepted the eventual control and rule of Africa by the stronger white European nations. In his view the inevitability of natural selection “advanced in favor of a world ruled by whites of European origin.”
Back in the United States, as early as in 1904, Charles Davenport, a devout supporter of Darwin and Galton, enlisted the billionaire Andrew Carnegie to financially support the Cold Spring Harbor Laboratory. The laboratory rapidly embraced the new science of Mendelism to support Darwinism and espouse “the doctrine that physical weakness and mental illness were both inherited.”
The fuel that drove the active pursuit of dysgenics was the concern over immigration and the risk that “lower-race” arrivals from eastern Europe, especially Jews, would “contaminate” and “weaken” the Anglo-Saxon racial stock of the United States. The passage of the Immigration Restriction Act (1924) can be traced directly to the publication of The Origin of Species. Several U. S. states pushed harder and enacted laws that gave government appointed doctors the power (without a hearing or trial) to sterilize those individuals that they determined to be mentally unfit and those who participated in various levels of petty and habitual crime.
By 1920 fifteen U. S. states passed sterilization laws. The U. S. Supreme Court ruled most of the laws unconstitutional until 1927, when in the case of Buck v. Bell, the Court deemed that the state of Virginia could sterilize Carrie Buck, a feeble-minded epileptic, daughter of another “low-mentality” woman already the mother of another child labeled “an imbecile.” Passing judgment, Justice Oliver Wendell Holmes ruled, “Three generations of imbeciles are enough.”
In the 25 years leading up to 1935, U. S. states enacted more than 100 sterilization laws and allowed the forced sterilization of over 100,000 Americans (labeled as having subnormal mental faculties) by the too willing medical doctors. The state of Virginia continued their forced sterilization programs operated by eager medical doctors through the 1970s.
While the world accepted eugenics and dysgenics, the British Empire (except Canada) rejected forced sterilization because of a persistent effort by G. K. Chesterton, who published a book on the subject. His campaign was aided by a satire authored by Aldous Huxley in 1932, Brave New World, which described a “dark Utopia” in which science and technology were employed in many forms to “create a hygienically perfect, but docile, and submissive society.” These movements combined to form an anti-Galton movement that Paul Johnson describes as “with a reprise of George Eliot’s worry that Darwinian natural selection was a dangerous form of determination, which would extinguish free will and the human instinct for freedom. It was also a sally against the bright utopia preached by H.G. Wells, in which science was king. Wells, Shaw, Beatrice and Sydney Webb, Havelock Ellis, and many other socialist intellectuals favoring both eugenics and dysgenics would have condemned to sterilization or even death all the mentally unfit if they could have brought to power a government to their taste. But they never persuaded the British Labour Party to adopt their views.”
Darwin commonly coined comments such as “rich as Jews” and blamed “a primitive Jewish God” for much that was wrong with Judeo-Christianity, especially the doctrine of eternal punishment, which he thought positively evil. However, Darwin publically professed that he was not anti-Semitic.
It is thought that Darwin’s teachings in The Origin of Species contributed to the destruction of Germany by emphasizing the constant violence that took place in the process of natural selection. Hitler was known to be fond of referring to the “awful prospect of mankind evolving backward or downward.”
In Hitler’s Table Talk, 1941–1944: Secret Conversations, the record of Hitler’s conversations taken down in shorthand by his army officers, Hitler is recorded as saying:
If we do not respect the law of nature, imposing our will by the might of the stronger, a day will come when the wild animals will again devour us—when the insects will eat the wild animals, and finally nothing will exist except the microbes. By means of the struggle the elites are continually renewed. The law of selection justifies this incessant struggle by allowing the survival of the fittest. Christianity is a rebellion against natural law, a protest against nature.
When the Nazis took power in Germany in 1933, they discovered that many of their theories on human purity were already upheld by medical and scientific organizations. A eugenic sterilization law was put into place when Hitler was released from jail and appointed chancellor. An entire bureaucracy was quickly put into place with Erbklinik (genetic clinics), Erbgesundheits gerichte (genetic courts), and Erbamter (genetic officials). By the 1940s, 400,000 people in Germany had been sterilized by Nazi doctors on eugenic charges—primarily those being found to be “mentally retarded.”
When World War II broke out in 1939, sterilization of those German citizens deemed to be retarded was replaced with a policy of euthanasia. Patients in mental hospitals were killed on charges based on theories of eugenetics by the too-willing doctors. Victims of these “hunts,” both adults and children, were killed by lethal injection or more efficiently by mass gassing. In the Nazi occupied territories they were executed by the same Einsatzgruppen firing squads that were killing Jews and Gypsies—one armor-piercing bullet was used to kill five people in line to conserve ammunition.
By 1941 some 70,000 German “mental patients” had been killed as a result of the official eugenic policy. This raised such a protest that Hitler gave the order to stop gassing them but to continue to execute them by other means.
Eugenics programs and Nazi racial-cleansing doctrines, in the form of executions, ran parallel to this and were carried out by the millions. Unimaginable numbers were executed in the concentration death camps. Racial theories stemmed from the policies and pursuits of the Society for Racial Hygiene that had become part of the German academic thought in the years after World War I. The Nuremburg Race Laws were conceived following considerable consultations with the leading German geneticists and doctors of the day.
In the 20th century, it is estimated that more than 100 million humans were killed or starved to death by totalitarian governments impregnated with a broad collection of bureaucratic forms of Social Darwinism.
In Russia, Mendelian genetic research and cleansing practices were banned. It was an integral part of the Marxist beliefs that “human beings were fashioned by the environment rather than by inborn or heritable talents.”
The Life and Work of Oswald Avery and The Rockefeller Institute
Oswald Avery was born in Canada in 1877. His father was a Baptist minister. When he was the age of ten, his family moved from Nova Scotia to the Lower East Side of New York City where Avery’s father operated a Baptist mission. His father and his brother Ernest both died in 1892 from tuberculosis. The Baptist community (including John D. Rockefeller) supported Avery’s mother and her two surviving children.
The year following his father’s and his brother’s deaths, Avery left high school and enrolled in the Colgate Academy, a Baptist college, fully intending to enter the ministry. Upon his graduation from Colgate, with no science background, Avery entered the College of Physicians and Surgeons of Columbia University. In 1904 he graduated as a doctor, interned in hospitals for several years, and then took a position in medical research.
In 1913 Avery took a post in the Rockefeller Institute in Manhattan. His responsibility was to study Diplococcus pneumonia, a common bacteria, which caused the death of 50,000 Americans each year from pneumonia. For thirty-five years Avery studied the bacteria. During the first ten years at the institute he studied the polysaccharide cloak that the bacteria generated with the goal of creating a “serum” that would attack the “sugar-coated microbe.”
Avery was nominated for a Nobel Prize for his bacterial studies. However, it was his genetic studies and his discovery of the gene that gave him a place in history.
In 1928 Fred Griffith, an English microbiologist, published a paper on a strange phenomenon. He discovered that the non-virulent strain R of the Pneumococcus spp. bacteria could be transformed into the virulent strain S and the mutation was inheritable!
Griffith found that by injecting mice with the non-virulent R strain of Pneumococcus spp. and then with the heat-killed S strain, he could produce pneumonia in the mice and then recover a live virulent S strain of the bacteria from the dead mouse. A non-virulent strain of bacteria had been transformed into a virulent form of the bacteria from something that was in the heat-killed bacteria!
Avery’s co-workers at the Rockefeller Institute were able to duplicate Griffith’s phenomenon in the test tube by using a simple cell-free extract of the heat-killed virulent bacteria to change the non-virulent bacteria into a killer. Avery now focused his energies on this inheritable phenomenon.
While genetic research was morphing into a political monster in Nazi Germany and being suppressed in Soviet Russia, Oswald Avery and his co-workers at the Rockefeller Institute were in New York were continuing to advance their studies on the Pneumococcus spp. bacterium.
Between 1934 and 1937 the process of “transformation” was perfected, primarily through the work of Avery’s colleague, Collin MacLeod. In 1941, in cooperation with Maclyn McCarty, a recent arrival at the institute, the goal was to isolate the “transforming principle” from the bacteria (MacLeod had moved to take a post at New York University in 1940).
With typical Avery zeal, the pair ran an endless methodical series of experiments to extract “the substance,” whatever it might be, from one strain of bacteria and to purify it. They attacked the extract with several different proteases, and yet it could still transform strain R into strain S. Therefore it could not be a protein.
Assaulting the substance with a lipid-dissolving alcohol and ether did not alter the transforming capacity of “the substance.” Therefore it could not be a fat. They came to the conclusion that “the substance” by process of elimination had to be a nucleic acid. However, ribonuclease, the enzyme that digests RNA did not destroy “the substance.”
By the process of elimination the only possibility left was DNA. “Levene’s dull, uninteresting molecule” was “the substance” and was producing the transformation from strain R to strain S!
It was eventually proved that deoxyribonuclease enzymes that destroy DNA did in fact inactivate “the substance”—the transforming factor was DNA!
“Sounds like a virus—may be a gene,” Avery declared in a May 1943 letter to his brother Roy: “If we are right, and of course that’s not yet proven, then it means that nucleic acids are not merely structurally important, but functionally active substances in determining the biochemical activities and specific characteristics of cells, and that by means of a known chemical substance it is possible to induce predictable and hereditary changes in the cells. This is something that has long been the dream of geneticists . . . the problem bristles with implications . . . It touches genetics, enzyme chemistry, cell metabolism, and carbohydrate synthesis, etc.
So there is the story, Roy—right or wrong it’s been good fun and lots of work.”
Avery’s discovery was an “epoch-making” event!
The resulting paper by Avery, MacLeod, and McCarty was published in January 1944 in the Journal of Experimental Medicine and it was as classic as Mendel’s Versuche. Unfortunately the Avery team published their work in a publication that was read by the wrong people who were microbiologists rather than geneticists.
In 1948, by the time the scientific community had come to realize the significance of the “transforming principle,” it was too late. Avery retired in Nashville and spent the remainder of his life near his brother and family, dying in 1955. His thirty-five years of research that had been focused on a single bacterium had “delivered up the most seminal discovery of 20th century biology.” However, the author of the research never received the ultimate accolade, the Nobel Prize.
The Role of Proteins in Molecular Organic Events
Mendel and Avery were looking at the same molecular events from different directions. Proteins were at the roots of both their observations. Proteins are “polymers” of amino acids that are found in a wide variety of configurations and mass. The three-dimensional diversity of proteins is related to the basic structural uniqueness.
Differences in protein length, amino acid sequences, the number of disulfide bonds, and connections of small molecules or ions to the amino acid side chains control the three dimensional diversity. Generally, the linear, unbranched polymer of amino acids that make up any protein can fold into a few tightly related three dimensional shapes called conformations. The physical conformation of a protein, along with the distinctive chemical properties of its amino acid side chains, will determine its functions.
Proteins produce and initiate a wide variety of distinct events inside and outside of cells that are essential to life or provide distinct evolutionary advantages to cells, tissues, organs and organisms. It is therefore paramount to the understanding of how cells work and reproduce to identify the specific structures and functions of proteins.
Generally, proteins can be placed into broad functional groups:
1. Structural proteins that determine the shapes of cells, their extracellular environments, and act as “guide wires” to direct the intracellular activities of molecules and organelles.
2. Scaffold proteins that join different proteins into specific arrays to perform specific functions more efficiently than if the proteins were separate entities.
3. Enzymes that are proteins that catalyze or facilitate specific chemical reactions.
4. Membrane transport proteins that facilitate the flow of ions and molecules across cellular membranes.
5. Regulatory proteins that perform as signals, sensors, and switches to regulate the activities of cells by directing the functions of other proteins and genes.
6. Signaling proteins (hormones and cell-surface receptors) that transmit extracellular signals into the cells cytoplasm.
7. Motor proteins that have the task of moving other proteins, organelles, ells, and even whole organisms.
8. Molecular machines Any one protein can be a member of more than one protein group or class (e.g., cell surface signaling receptors that are both enzymes and regulatory proteins).
Proteins essentially mediate or facilitate diverse functions by directing a small number of basic activities. Proteins bind to other proteins and macromolecules such as DNA, small molecules, and ions. In most cases these binding events produce a conformational change in the protein which directs its activities.
A complete directory of how proteins encourage and direct cells to live and flourish requires the identification and characterization of the proteins employed by a cell. In a sense, the ultimate goal of molecular cell biologists is to compile a complete protein “parts catalogue” and construct an all-inclusive cook book that describes how these proteins function. Compiling a comprehensive protein catalogue has become feasible in recent years with the sequencing of entire genomes—complete sets of genes (of many organisms). The human genome contains 25,000 genes that make and direct the function of proteins.
Proteome refers to the complete collection of proteins of an organism. The human proteome is comprised of 33,000 different proteins. By studying protein sequences and structures of unknown proteins and comparing them with proteins of known function, one can predict some possible functions of the unknown.
The primary structure of a protein is the linear arrangement, or sequence, of the amino acids that it is comprised of. A short chain of amino acids (less than 20 to 30 amino acid residues) linked by the peptide bonds and that has a distinct sequence is called an oligopeptide, or just peptide; long chains of amino acids are referred to as polypeptides (more than 200 to 500 amino acid residues).
The second level of protein structure is the secondary structure, which are stable spatial arrangements of segments of a polypeptide chain that are held together by hydrogen bonds that connect the backbone amide and carbonyl groups and frequently involve repeating structural patterns. A single polypeptide might contain several types of secondary structures in various portions of the chain. The principal secondary structures are the alpha helix, the beta sheet, and a U-shaped beta turn.
Proteins are highly adaptable “molecular machines,” switches, cellular catalysts, and components of cellular, tissue, and organ structure.
Nucleic acids are linear polymers of four different types of nucleotides. These macromolecules contain an exact sequence of their nucleotides which carry the specific information to determine the amino acid sequence, structure, and function of the proteins in the cell; they are necessary functional components of the cellular macromolecular factories that select and line up amino acids in a proper order as a polypeptide chain is being synthesized; and they catalyze a cluster of peptide bonds between amino acids during protein synthesis.
Deoxyribonucleic acid (DNA) is an informational molecule that contains in the sequence of its nucleotides the data required to synthesize all of the proteins found in the organism including the cells, tissues, and organs of that organism.
DNA is ideally configured to perform this function on a molecular level and chemically DNA is extremely stable (enabling the recovery of the DNA sequences from animal and plant fossils that are thousands of years old).
All of the information required to support the development of the fertilized human egg (zygote) through the various stages of the embryo, to childhood, and to an adult made up of trillions of specialized cells is stored in the sequence of the four nucleotides that make up the = 3 x 109 base pairs of the human genome. The exact replication of this information for all species ensures its genetic replication from one generation to the next, and the health of the DNA is therefore critical for the normal development of the individual organism. DNA fulfills these functions so well that it is the vessel for (the transmission) of genetic information in all forms of life known on earth.
The information that is stored in DNA is clustered into hereditary packages referred to as “genes.” In turn the genes control the specific traits of each species.
In the process known as “transcription” the information stored in the DNA is copied into ribonucleic acid (RNA), which has three specific responsibilities in protein synthesis, as described by H. Lodish, et al. in Molecular Cell Biology, 6th Edition:
Portions of the DNA nucleotide sequence are copied into messenger RNA (mRNA) molecules that direct the synthesis of a specific protein. The nucleotide sequence of an mRNA molecule contains the information that specifies the correct order of amino acids during the synthesis of a protein. The remarkably accurate, stepwise assembly of amino acids into proteins occurs by translation of mRNA. In this process, the nucleotide sequence of an mRNA molecule is “read” by a second type of RNA called transfer RNA (tRNA), and their associated proteins. As the correct amino acids are brought into sequence by tRNAs, they are linked by peptide bonds to make proteins. RNA synthesis is called transcription because the nucleotide sequence ‘language’ of DNA is precisely copied, or transcribed, into the nucleotide sequence of an RNA molecule. Protein synthesis is referred to as translation because the nucleotide sequence language of DNA and RNA is translated into the amino acid sequence language of proteins.
DNA and RNA are similar from a chemical definition; primary structures of DNA and RNA are linear polymers made up of monomers named nucleotides. Both DNA and RNA act primarily as informational molecules, carrying information in the exact predictable sequence of their nucleotides. Cellular RNAs typically vary in length from fewer than 100 to many thousands of nucleotides. Cellular DNA molecules can contain as many as several hundred million nucleotides. These large DNA structures in association with proteins can be stained and viewed through the light microscope as chromosomes (this was the name given for them because they can be stained for identification).
Though chemically similar, DNA and RNA are characterized by significant differences. It is, however, the different and individual properties of DNA and RNA that give them the specific place in cell function.
In all organisms, DNA and RNA are both made up of four different nucleotides. The nucleotides employed in the synthesis of DNA and RNA one of five different bases. The bases adenine (A) and guanine (G) are purines, which contain a pair of fused rings; the bases cytosine (C), thymine (T), and urasil (U) are pyrimidines, which contain a single ring.
Three of these bases, A, G, and C are found in both DNA and RNA; However, T is only found in DNA, and U only in RNA. The linear sequence of nucleotides connected by phosphodiester bonds makes up the primary structure of the nucleic acids. Similar to polypeptides, polynucleotides can twist and fold into three-dimensional structures stabilized by noncovalent bonds. The primary structures of DNA and RNA are similar, yet their three-dimensional structures are different.
An Alternate Theory of Disease Transmission
The science of “molecular biology” began in 1953 when James D. Watson, an American, and Francis H. C. Crick, an Englishman, proposed that the structure of DNA was a double helix. Their original proposal of the DNA structure was based on an analysis of x-ray diffraction studies by Rosalind Franklin and Maurice Williams and the construction of chemical models.
The genetic theory of disease transmission has dominated the funding, research, and marketing direction of the medical and pharmaceutical industries throughout the 20th and 21st centuries. The genetic theory of disease transmission is based on misinterpretation of observations, lack of complete information, isolated facts, descriptions of events and dogma.
The genetic theory of disease transmission poses the following: “Inherited human diseases are the phenotypic consequence of defective human genes. Although a ‘disease’ gene may result from a new mutation that arose in the preceding generation, most cases of ‘inherited’ diseases are caused by preexisting mutant alleles that have been passed from one generation to the next for many generations.”
The current genetic theory of disease transmission goes on to declare that: “Human genetic diseases that result from mutation in one specific gene exhibit several inheritance patterns depending on the nature and chromosomal location of the alleles that cause them.”
It is also said by geneticists that “the characteristic pattern is that exhibited by a dominant allele in an autosome (that is, one of the 22 human chromosomes that is not a sex chromosome). It is often the case that the diseases caused by dominant alleles appear later in life after reproductive age.”
(In fact, Wallach maintains that this pattern of the time of appearance of the disease is a signal that the disease is not genetically transmitted!).
Huntington’s Disease
The theorized iconic example of an autosomal dominant disease in humans is Huntington’s disease, a neural degenerative disease that generally strikes in mid-to-late life.
The Merck Manual describes Huntington’s disease (aka Huntington’s chorea) “as an inherited disease in which people in midlife begin having occasional jerks or spasms and gradual loss of brain cells, progressive to chorea, athetosis, and mental deterioration.”
During the early stages of Huntington’s disease, people can blend the spontaneous abnormal movements into intentional ones so that they’re barely noticeable. However, with time, the movements become more obvious. Eventually, the abnormal movements involve the entire body so that eating, dressing, and even sitting still become nearly impossible.
Mental changes in Huntington’s disease are subtle at first. People afflicted with the disease may gradually become irritable and excitable; they may lose interest in their usual activities. Later in the course of the disease, they behave irresponsibly and often wander aimlessly. They may lose control over their impulses and become promiscuous. Over years or decades, they may lose their memory and the ability to think rationally. They may become severely depressed and attempt suicide. In advanced disease, almost all functions become impaired and full-time assistance or nursing home care is needed. Death is often precipitated by pneumonia or a fatal injury from falling and usually occurs 13 to 15 years after symptoms first appeared.”
One of the earliest physical signs of Huntington’s disease is chorea, involuntary movements. The problems with involuntary movements are usually very subtle in the beginning stages of the disease and are typically described as a slow motion type of movements or bradykinesia. The Huntington’s patient’s speech can become slurred. As the disease progresses, dystonia becomes obvious as limbs being held in unnatural positions. Pharmaceuticals, occupational therapists, speech therapy, and physical therapy are typical treatment avenues as the medical thought is that Huntington’s disease is a terminal genetically-transmitted disease and they believe that “No cure exists.”
At autopsy, the brain of a Huntington’s disease patient is smaller than that of a normal average human brain in volume and weight. When the normal brain is cut into there is a division of the cortex (grey matter) and the myelin (white matter). At the base of the brain is more grey matter: this area of the grey matter is be easily viewed. This area of the grey matter contains a greater number of nerve cells and is called the basal ganglia. In this section of the brain it can be divided into two parts, which are called the caudate nucleus and the putamen. Cells in the caudate and putamen (medium spiny neurons) that contain GABA (gamma-aminobutyric acid) are particularly sensitive to the oxidative damage typically found in Huntington’s disease.
If one looks at the brain of a Huntington’s disease patient there are folds on the surface that are wider, and the basal ganglia are reduced to a thin rim of tissue. Although the major damage occurs in the basal ganglia, damage often occurs to the other parts of the brain which produces a wide spectrum of symptoms.
The basic responsibility of the cells of the basal ganglia is to co-ordinate the activities of the neurons in the cortex to signal changes in various muscle groups to create a smooth continuum of movement. Damage to the indirect pathway tends to produce chorea, while damage to the direct pathway produces bradykinesia.
The medical system divides dementia into the cortical or subcortical forms. Alzheimer’s disease falls into the cortical dementia column; Huntington’s disease, Parkinson’s disease, and others fall into the subcortical dementias.
In fact, Huntington’s disease is not a genetically-transmitted disease as dictated by the current medical dogma, but is rather part of a kaleidoscope of related diseases caused by a common oxidative assault and common nutritional deficiencies, and by random chance different parts of the brain are more severely damaged than others, causing the different clinical appearances:
Tourette’s syndrome is a neurological disorder beginning in childhood in which motor and vocal tics occur on a regular basis throughout the day. The appearance of Tourette’s syndrome occurs early in childhood and steadily progresses to bursts of complex movements, including vocal tics and sudden, spastic respiration. Vocal tics may start as grunting or barking noises and progress to compulsive, involuntary bouts of cursing. (Wallach personally suffered from Tourette’s syndrome as a four-year-old child. With supplementation of all 90 essential nutrients, at the age of nine years he resolved his disease in three days.)
Chorea and Athetosis The chorea is expressed as repetitive, brief, jerky, large-scale, dancing-like, uncontrolled movements that begin in one part of the body and moves location abruptly, unpredictably, and continuously to other locations. Athetosis is a continuous stream of slow, sinuous, writhing movements, generally in the hands and feet. Chorea and athetosis can occur together and are called choreoathetosis. People with chorea and athetosis have lesions and abnormalities in the basal ganglia.
Sydenham’s disease St. Vitus’ dance or Syndenham’s chorea is a childhood disease that frequently follows Streptococcal spp. infections.
Dystonia presents itself as involuntary, slow, repetitive, sustained muscle contractions that produce “freezing” in the middle of an action, with twisting, turning, or torsion movements of the trunk, the entire body, or different zones of the body. The brain areas affected include the basal ganglia, thalamus, and cerebral cortex. Mild forms of dystonia can manifest itself as writer’s cramps, blepharospasm (eyelids repeatedly and involuntarily forced shut), torticollis (recurring neck spasms that twist the neck sideways, forward, or backward), spasmodic dysphonia (spasms of vocal cord muscles that block speech, make speech sound strained, quivery, hoarse, jerky, creaky, staccato, or garbled and difficult to understand), and yips (golfer’s dystonia or musician’s dystonia).
Parkinson’s disease develops during middle age, and is characterized as a slowly progressing, degenerative disorder of the central nervous system. Parkinson’s disease produces tremor (chorea) when at rest, sluggish and slow movements (bradykinesia), and muscle rigidity. The basal ganglia are directly affected in Parkinson’s disease resulting in jerky movements.
In Parkinson’s disease, the neurons in the basal ganglia degenerate. The disease begins subtly and progresses gradually. In many individuals it begins with a tremor in the hand when the hand is at rest. The tremor decreases when the hand is moving purposefully and disappears completely during sleep. Emotional stress or fatigue may increase the tremor, which has a smooth, rhythmic quality. Although the tremor may start in one hand, it eventually progresses to the other hand the arms, and the legs. The jaw, tongue, forehead, and eyelids additionally may be affected by tremors. In about one third of those with Parkinson’s disease, tremors aren’t the first symptom; in other individuals the tremors become less severe as the disease progresses; and in others the tremors never develop.
Initiating a movement is particularly difficult in those afflicted with Parkinson’s disease, and muscle stiffness (rigidity) develops. The small muscles of the hands lose function and dexterity which makes simple jobs such as buttoning a garment and tying shoe laces difficult. Parkinson’s disease patients walk with a shuffling, short-stepped gait in which their arms don’t swing with their stride. The typical patient’s face becomes expressionless and can develop a blank stare with an open mouth and a reduced blinking rate.
Individuals with Parkinson’s disease will speak softly in a monotone and may stutter. Most will maintain a normal intelligence; however, others will develop dementia.
Progressive supranuclear palsy is seen with less frequency than Parkinson’s disease. It produces muscle rigidity, inability to control eye movement, and weakness of the throat muscles. This disease typically shows up in the late middle age with difficulty in rolling the eyes upward. As with Parkinson’s disease, this palsy progresses to advanced stiffness and disability. The disease destroys the basal ganglia and brain stem.
Shy-Drager syndrome (idiopathic orthostatic hypotension) is similar to Parkinson’s disease, additionally it causes malfunction and destruction of the autonomic nervous system, which regulates the blood pressure, heart rate, gland secretions, and visual focusing. The blood pressure falls when the patient stands up. The volume of sweat, tears and saliva falls, eyesight fails, urination becomes difficult, constipation is typical and movement syndromes are similar to those of patients with Parkinson’s disease and Huntington’s disease.
Causes for Disease Symdomes with Brain Lesions That Share a Broad Symptom List
Many individuals diagnosed with multiple sclerosis, ALS (Lou Gehrig’s disease), Alzheimer’s disease, Korsakoff’s syndrome (cerebral beriberi), Wernicke-Korsakoff’s syndrome (cerebral beriberi and multiple sclerosis combined), and Creutzfeld-Jakob disease (BSE, Mad Cow Disease, enzootic ataxia, etc.) share the broad symptom list and brain lesion list with Huntington’s disease.
These diseases traditionally have affected middle-aged people starting at about 35 years of age. Starting in the year 2000, the demographics changed with the fastest growing age group diagnosed with MS, ALS, etc., being children under the age of 12 years and the youngest individuals diagnosed with these diseases found to be 18 to 20 months of age. All are caused by free radical damage of the brain that results from inordinately high intakes of trans-fatty acids, heterocyclic amines, and acrylamides.
There are no rules that state one individual can’t have two, three, or more of these disease syndromes at the same time. None of these diseases are genetically transmitted; however, they may appear “familial” because of a pervasive gluten intolerance being passed on through generations by the female siblings being sensitized to gluten through cord blood and breast milk. Males also acquire gluten intolerance from their mothers, but because they do not carry pregnancies or breast feed their offspring they do not pass on gluten intolerance, which is a contact enteritis rather than an allergy based syndrome.
The basic array of brain lesions and chemical derailment of all of the above neurological disease syndromes are the result of simple “dumb luck” or randomized distribution of and combinations of two universal events:
1. Free radical damage resulting from the regular consumption of gluten, fried foods, burnt animal fat, oxidized dietary oils, processed meats containing nitrates, and other nitrites and excessive mono or polyunsaturated oils. On occasion consumption of certain pharmaceuticals, chemicals, and toxic levels of certain food additives, such as high levels of manganese (Parkinsonism), can produce symptoms of these disease syndromes.
2. Nutritional deficiencies that produce the biochemical disruption of brain function and the physical lesions of these diseases. In addition to low levels of nutrients in local food supplies, absorption problems related to gluten intolerance will produce an increased risk for acquiring these diseases. YOU ARE NOT WHAT YOU EAT—YOU ARE WHAT YOU ABSORB!
To prevent, and in many cases resolve, this family of basal-ganglia deficiency diseases one should be obsessive about proper dietary changes. Consume four to six eggs per day (poached, soft boiled, and scrambled in butter) per 100 pounds of body weight, supplement with all 90 essential nutrients and additional antioxidants to levels in excess of 100,000 ORAC points per day.
A recessive allele in an autosome exhibits quite a different segregation pattern. For an autosomal recessive allele, both parents must be heterozygous carriers of the allele in order for their children to be at risk of being affected with the disease. Each child of heterozygous parents has a 25 percent chance of receiving both recessive alleles and thus being affected, a 50 percent chance of receiving one normal and one mutant allele, and thus being a carrier, and a 25 percent chance of receiving two normal alleles.
Cystic fibrosis
An iconic example pointed to by geneticists as the text book example of an autosomal recessive disease is cystic fibrosis. Typically, related individuals exhibit a relatively higher rate of being “carriers” for the same recessive alleles. Therefore, children born to related parents (such as those are first or second cousins) are much more prone than those born to unrelated parents to be homozygous for expression of the autosomal recessive disorder.
Cystic fibrosis is currently and conventionally “thought to be a genetically-transmitted disease that causes certain glands to produce abnormal secretions, resulting in several symptoms, the most important of which affect the digestive tract and lungs.”
Cystic fibrosis is listed in The Merck Manual as “the most common inherited disease leading to death among white people in the United States. It occurs in 1 of every 2,500 white babies and in 1 of every 17,000 black babies. It’s rare in Asians. Cystic fibrosis is equally common in boys and girls. Many people with cystic fibrosis die young, but 35 percent of Americans with cystic fibrosis reach adulthood.”
Meconium ileus, a form of intestinal obstruction in newborns, occurs in 17 percent of children with cystic fibrosis. Meconium is an abnormally solid form of feces of the newborn that is produced by the fetus gulping down a gluten-rich amniotic fluid that in turn produces a “contact enteritis” and a permanent gluten intolerant state in the individual. It appears as a dark green bowel movement that is thick and passes only with great difficulty. If the meconium is too thick, it obstructs the intestine. Blockage can result in a perforated bowel or torsion of the gut. The meconium can also create plugs in the large intestine, rectum, or anus and again cause obstruction. Newborn babies with meconium ileus almost always will test positive for cystic fibrosis. Meconium ileus is a common manifestation of gluten intolerance in the newborn that results in a lifelong battle with malabsorption.
In newborn children with cystic fibrosis, the level of the digestive enzyme trypsin in the blood is high. This enzyme level is measured in a small drop of blood collected on a piece of filter paper. This is a non-conclusive screening test. The quantitative pilocarpine iontophoresis sweat test measures the amount of salt in sweat and a positive reading is considered to be a confirming “genetic marker” for the diagnosis of cystic fibrosis.”
A sweat-salt concentration above the normal level confirms the diagnosis of cystic fibrosis. However, a positive sweat test is also found in seventeen other diseases including gluten intolerance, celiac disease, sprue, starvation, kwashiorkor, zinc deficiency, etc., and is easily brought back to normal with a gluten-free diet and a proper supplement program that gives optimal levels of all 90 essential nutrients with additional selenium added.
By the age of 20 years many cystic fibrosis patients will develop type 2 diabetes because of the loss of intestinal villi (related to gluten intolerance/contact enteritis) results in malabsorption of the minerals that are required to prevent diabetes. A gluten-free diet, supplementation with the 90 essential nutrients, and extra selenium, chromium, and vanadium can “support and promote” optimal metabolism of carbohydrates, sugars, fats, and proteins at the cellular level, “support” healthy blood sugar levels, and reverse the “genetic markers” of cystic fibrosis.
In fact, cystic fibrosis is not a genetically-transmitted disease, but instead is a congenital or neonatal deficiency disease of the trace mineral selenium (refer to Wallach, J.D. and Germaise, B.: Cystic Fibrosis: A Perinatal Manifestation of Selenium Deficiency. In: Hemphill, D. D. (ed). Trace substances in environmental health XIII. University of Missouri Press, Columbia, MO., 1979 pp. 469–476.) Families with generations of cystic fibrosis typically have a gluten intolerance that is passed on through generations by the mothers through the cord blood or breast milk. Studies show that even couples who are both cystic fibrosis patients produce normal babies. This result is impossible in the classic recessive genetically-transmitted disease model.
The Discovery of First Non-Human Case of Cystic Fibrosis
In November of 1977, Wallach while employed at the Yerkes Primate Center, identified the first non-human case of cystic fibrosis in a failure-to-thrive rhesus monkey that was six months old. Wallach sought out and acquired the appropriate validation of his diagnosis by the appropriate cystic fibrosis experts, which caused Emory University and the Yerkes Regional Primate Research Center to send out a news release (1978) lauding the confirmed discovery.
Three months later Wallach was terminated from his position as a pathologist at the Yerkes Primate Center when he complied with a request to provide an abstract for an NIH animal model committee presentation. Wallach was then asked how many cystic fibrosis monkeys could he provide for research? Wallach’s answer was that he had discovered at the very least how to create an animal model for further research—the reason given for no progress in the understanding of the genesis of cystic fibrosis was the lack of a reproducible credible animal model. He was fired for inferring that cystic fibrosis was not a genetic disease, but rather a congenital and or a perinatal deficiency of the trace mineral selenium.
News Copy from
Emory University
Sunday, March 5, 1978
Subject: First case of Cystic Fibrosis discovered in non-human
Scientists at the Yerkes Regional Primate Research Center at Emory University have discovered cystic fibrosis in a young rhesus monkey from an autopsy, which is the first nonhuman case of this disease known to medical science. “This appears to be the first animal model of cystic fibrosis, and we are excited about its implications, “says Drs. Joel Wallach and Harold McClure, who are veterinary pathologists at the Yerkes Research Center.
Since cystic fibrosis is thought to be a genetic disease, there is a possibility that the parents and/or relatives of the affected monkey can have additional offspring with cystic fibrosis. An animal model of cystic fibrosis will permit investigators to learn a great deal about the basic causes of the disease and how it might be treated, the Yerkes scientists explained. At present, the basic cause and defect of cystic fibrosis is not known.
Cystic fibrosis is a disease of children, adolescents, and young adults which is characterized by abnormal mucus secretions and fibrous scarring in various organs like the pancreas, liver, lungs, reproductive and digestive systems. Many of its victims die in early life of complications such as malabsorption and pneumonia.
More than 25,000 white people in the United States have the disease, but a much larger number, five percent of the entire white population, are thought to be carriers of the recessive gene of cystic fibrosis. It is rarely seen in the black population or in people of Asiatic origin.
The discovery of the cystic fibrosis in the monkey came as Dr. Wallach, assistant veterinary pathologist at the Yerkes Center, was performing a routine autopsy on a six month old male rhesus monkey that had died of unknown causes. He noticed pancreatic disease and bronchial mucus production. Evaluation of this tissue later under a microscope revealed “a classic textbook case” of cystic fibrosis as pictured in human medical literature, Dr. Wallach said.
Studies of tissue from other organs confirmed that the monkey was indeed a victim of cystic fibrosis according to Dr. Joel Wallach. His diagnosis was reaffirmed by Dr. Victor Nasar, an Emory pediatric pathologist at Atlanta’s Grady Memorial Hospital and by Dr. John Easterly, a pathologist at the Chicago Lying-In Hospital and a national authority on cystic fibrosis.
A report on the discovery was made on Saturday, March 4, 1978 at a Primate Pathology workshop held in Atlanta. Drs. Wallach and McClure gave the presentation at Emory’s Glenn Memorial building near Grady Hospital.
They said the infected animal was bred in a colony of rhesus monkeys supported by the National Aeronautics and Space Administration for studies pertaining to the U.S. space program. “What we have here is a classic example of serendipity,” claim Drs. Wallach and McClure. “These animals were being studied for the space program but are now also providing us clues in a different area altogether.”
Dr. Nelly Golarz de Bourne, a behavioral researcher at the Yerkes Center, is conducting NASA studies on the monkey colony in collaboration with Dr. Geoffrey H. Bourne, the director at The Yerkes Center. Their records go back at least ten years, and include information pertaining to breeding and diseases of the animals.
“We can now go back and look at slides of the animals that died to see whether any of them might have had any of the more subtle changes of cystic fibrosis,” Dr. McClure explained. “This discovery has made us aware that these animals can have the disease, so we can pursue new cases, both in the past and future. If we can breed a supply of animals with cystic fibrosis, using the parents, siblings, or other relatives with cystic fibrosis, this would be a great boon to researchers.”
Until recently, research efforts toward understanding and curing cystic fibrosis have been severely hampered by lack of an animal model. “We are very fortunate that the rhesus monkey is the animal model that was found by Dr. Wallach, because more is known about this animal than about any other nonhuman primate,” states Dr. McClure. “They are also available for research in fairly large quantities.”
Dr. James A. Peters, medical director of the Cystic Fibrosis Foundation that has its headquarters in Atlanta, commented, “We eagerly await the result’s of Dr. Wallach’s studies because of the importance of an animal model to both basic and clinical research on cystic fibrosis.”
Dr. Peters noted that Dr. Wallach will participate in a May 25–26, 1978 workshop in Bethesda, MD., speaking about the animal model now available for the study of cystic fibrosis. The workshop is jointly sponsored by the U.S. National Institute of Arthritis, Metabolism, and Digestive Disease and the Cystic Fibrosis Foundation.
Wallach was invited to present a paper on his findings about cystic fibrosis to the NIH Animal Model Conference in Maryland at the NIH Campus. He was asked for an abstract of his presentation, and when he noted that the cystic fibrosis in the rhesus monkey was caused by a selenium deficiency in the diet of a small colony of rhesus monkeys that were being used to raise baby monkeys for space research by NASA, Wallach was summarily terminated from his post and blackballed from working as a pathologist.
Wallach attended the National College of Naturopathic Medicine and taught nutrition at the college in Portland, Oregon. His purpose was to become a naturopathic physician (ND) so that he could treat cystic fibrosis children with his nutritional approach.
In 1990 Wallach and Ma Lan went to China with the financial help of Wallach’s mother and the academic introductions of Ma Lan’s father’s (Ma Do) and mother’s (Xia Pin) academic connections in China and they performed 1,700 autopsies on children under the age of ten years of age in Keshan Provence. The purpose was to examine children who had died of Keshan disease, a known selenium-deficiency disease that resulted in death from hypertrophic cardiomyopathy.
Wallach posited that if his observation was correct, that cystic fibrosis was in fact due to a congenital or postnatal selenium deficiency, then surely some of the Keshan disease children would also have cystic fibrosis. The result of the study was that in fact that 595 or 35 percent of the Keshan disease children autopsied also exhibited the classic gross and microscopic pancreatic, liver, heart, and lung disease consistent with a diagnosis of cystic fibrosis, and 100 percent exhibited the classic heart disease consistent with a diagnosis of “mulberry heart disease,” a classic manifestation of selenium-deficiency muscular dystrophy in swine (see Wallach, J.D., Ma, L., et al.: Common denominators in the etiology and pathology of visceral lesions of cystic fibrosis and Keshan disease. Biol Trace El. Res. 24:189–205. 1990.)
The implementation of a gluten-free diet and the supplementation of the 90 essential nutrients and extra selenium has reversed the positive sweat test (i.e., the “genetic marker” for cystic fibrosis) in an Italian cystic fibrosis baby as measured in a blind study by an Italian pediatric hospital.
An Alternative Theory to Conventional Thought about the Cause of Duchenne Muscular Dystophy
The third commonly accepted theorized pattern of inheritance is that of an X-linked recessive allele. According to the Merck Manual: The medical dogma for this poses that a recessive allele on the X chromosome will most often be expressed in males, who receive only one X chromosome from their mother, but not in females, who receive an X chromosome from both their mother and their father. This theory states that this leads to a distinctive sex-linked segregation pattern where the disease is exhibited much more frequently in males than in females.
For example, Duchenne muscular dystrophy (DMD), a muscle degenerative disease that specifically affects males, is thought to be caused by a recessive allele on the X chromosome. DMD exhibits the typical sex-linked segregation pattern in which mothers who are heterozygous and therefore phenotypically normal can act as carriers, transmitting the DMD allele, and therefore the disease, to 50 percent of their male progeny.
Wallach proposes an alternative theory. This is that the different and various manifestations of muscular dystrophy are the result of a deficiency of selenium and by random chance different muscle groups and concurrent nutrient deficiencies of additional essential nutrients (such as vitamin E, sulphur, methionine, zinc, omega 3-fatty acids, etc.). The genetic theory posits that the gene defect that causes DMD is different from the one that causes Becker’s muscular dystrophy, but both defects involve the same gene. The gene is recessive and is carried on the X chromosome. While a female can carry the defective gene, she doesn’t have the disease because the normal X chromosome compensates for the gene defect on the other X chromosome. However, any male who receives the defective X chromosome will have the disease.
Children with Duchenne’s muscular dystrophy have a reduced level of dystrophin, an essential muscle protein involved in the basic structure of muscle cells. Twenty to thirty boys of every 100,000 born have DMD while three of every 100,000 contract Becker’s muscular dystrophy. Female children with subclinical muscular dystrophy tend to have a high rate of clinically significant scoliosis.
DMD tends to display symptoms between the ages of three and seven as a weakness of the pelvic muscles making it difficult to stand up from a deep squat position, as determined by the Wallach/Ropp test. Weakness in the shoulder muscles soon follows and steadily progresses. As the skeletal muscles become weaker they tend to hypertrophy. In 90 percent of the children with DMD, the heart muscle hypertrophies (as shown in Keshan disease, hypertrophic cardiomyopathy, and “mulberry heart disease” of swine) and is often the ultimate cause of death.
Children with DMD tend to waddle, fall frequently, have difficulty in climbing stairs and rising from a sitting position; the afflicted muscles of the arms and legs contract at the joints, producing a limit in extension of knees and elbows. By age 10 to 12 years of age most children with muscular dystrophy are confined to a wheelchair and most unsupplemented muscular dystrophy patients die by the age of 20 years.
Children with Becker’s muscular dystrophy tend to have less severe symptoms and a later onset of disease at about age 10 years. Few are confined in wheelchairs and 90 percent are still alive at age 20 years.
Landouzy-Dejerine muscular dystrophy is said by dogma to be transmitted by an “autosomal dominant gene”; therefore, in this model, only one abnormal gene can cause the disease. In this form of muscular dystrophy, both males and females are afflicted at the same rate, the symptoms begin between the ages of 7 and 20 years. This form of muscular dystrophy always involves the facial and shoulder muscles, making it difficult for patients to raise their arms, whistle, and close their eyes. Some will also develop the typical leg weakness of Duchenne’s muscular dystrophy.
Limb-girdle muscular dystrophies cause weakness in the muscles of either the pelvis (Leyden-Mobius muscular dystrophy) or the shoulder (Erb’s muscular dystrophy).
Mitochondrial myopathies are thought by dogma to be transmitted through faulty mitochondrial genes. These forms of myopathies are rare and typically cause weakness in single muscle groups such as the eye muscles (e.g., ophthalmoplegia).
The different forms of muscular dystrophy are in fact the same disease and not caused by different genes. Instead the various manifestations of muscular dystrophy occur by dumb luck, random chance, and a combination of concurrent deficiencies of multiple nutrients in addition to the selenium deficiency.
Positive muscle biopsy and elevated blood creatinine levels are required to make a diagnosis of muscular dystrophy. The microscopic changes in the muscle fibers afflicted with muscular dystrophy typically have hypertrophy, lose their contractile striations, and display a classic wax-like hyaline change.
The genetic model for muscular dystrophy is declared to be incurable. But with an obsessive avoidance of gluten along with supplementation with the 90 essential nutrients and the addition of extra selenium can prevent and reverse all forms of muscular dystrophy. The earlier the gluten-free diet is employed and the nutrient treatment begins in the patient’s life, the more rapid, dramatic, and complete are the results. In livestock, injections of a mixture of selenium and vitamin E to calves, lambs, kids, and piglets afflicted with “white muscle disease” (aka muscular dystrophy) cures the disease in days.
However, the current medical approach to human muscular dystrophy is surgery, prednisone, crutches, braces and wheelchairs, and the advice to consult a genetic counselor.