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The Role of Diet in Genetic Disorders

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Many researchers and support groups state that birth defects and genetic disorders, especially connective tissue disorders such as Marfan syndrome, osteogenesis imperfecta and Ehlers-Danlos syndrome, can't possibly be cured through diet because they are inherited genetic disorders. This conclusion is invalid simply because many birth defects and inherited genetic disorders have been found to be improved, or even cured, through diet.

The old school of thinking that a birth defect or inherited disorder had to be caused by a single gene is no longer widely held in medical circles. The breakthrough concept in research is that many birth defects and inherited disorders are influenced by both genes and environmental factors, especially nutrition. Genes may make people susceptible to certain defects and disorders, but they are often only a part of the picture.

"Genes are not necessarily destiny. They are influenced by the chemistry of what we consume." - article on Your Genes, Your Diet from Psychology Today


Some interesting examples and articles on the subject are listed below.

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Genetic Disorders and Birth Defects Treatable Through Diet

Homocystinuria - This inherited connective tissue disorder shares many features with Marfan syndrome including the Marfanoid habitus and dislocated lenses. Many cases of homocystinuria are treatable through nutritional therapy.

I've read that osteogenesis imperfecta can't be cured through diet because it is a genetic disorder of collagen and not a nutritional deficiency. This is not a logical conclusion because homocystinuria is a genetic disorder of collagen and it is treatable through diet. (Also see mitral valve prolapse directly below).

Down Syndrome - Down syndrome, also called trisomy 21, is a complex genetic disease that for years was said to be caused by an extra copy of chromosome 21. A recent landmark study indicated that mothers of children with Down syndrome have an imbalance in folate metabolism that may be explained, in part, by a common genetic variation in an enzyme involved in the folic acid pathway. Further studies are expected to see if maternal folic acid supplementation will reduce the incidence of the disorder. If folic acid does prove to reduce incidences of Down syndrome, then this means the chromosome abnormality found in the disorder is a feature associated with the syndrome, but was not the singular cause.

Interestingly, before "bad" genes started getting the sole blame for most birth defects, medical doctors used to think that "maternal nourishment" was a factor in Down syndrome. Unfortunately somewhere along the line this view fell out of favor.

In the 1931 book, The Home Physician and Guide to Health, the authors had this to say about Down syndrome (called Mongolianism back then):

"Over half of the cases are the last born of a large family, suggesting a worn-out reproductive power on the part of the mother. Scientists who have studied Mongolianism declare that 'the sole and adequate cause is to be sought in the condition of the mother during pregnancy.' Because we do not know just what causes the abnormal condition in the mother in such cases, how important it becomes for all prospective mothers to obey the laws of the mind and body, to secure peace and a well nourished body!"

If further studies do confirm that maternal folic acid deficiency does prevent, or at least reduce some occurrences of Down syndrome, then time may prove the doctors, who wrote this book in 1931, to have been correct.

On the mineral front, a number of studies on Down syndrome have linked the syndorme to zinc deficiencies. A 1994 study has shown zinc supplementation had a positive effect on DS patients.

Mitral Valve Prolapse (MVP) - MVP is a common feature of most inherited connective tissue disorders, yet also a common finding among the population on general. Geneticists consider mitral valve prolapse syndrome to be an inherited collagen disorder with overlapping features similar to Marfan syndrome. It is listed in the Marfan nosology as a differential diagnosis to be considered instead of Marfan syndrome. Nutrition oriented research studies, however, show the majority of people with mitral valve prolapse are magnesium deficient and that magnesium supplementation frequently reduces or alleviates MVP symptoms. (See my section on MVP syndrome for more on this topic.)

Personal anecdote

I have been diagnosed with both MVP and MVP syndrome. I was told by a Stanford geneticist that MVP syndrome was an incurable, genetic disorder. The geneticist who told me this seemed unaware of the many studies linking MVP and magnesium deficiencies, and never tested me for magnesium or other nutritional deficiencies.

After changing my diet to include more magnesium rich foods, all of my MVP symptoms, including frequent heart palpitations, completely stopped. While I may have had an inherited tendency to develop MVP, clearly I never had an incurable genetic disorder. If I had, then my diet changes would have had no impact on my symptoms.

Cystic Fibrosis - The gene that makes people susceptible to cystic fibrosis was discovered in 1989, however, genes have been found to be not the only factor in this disorder. Among people with the same cystic fibrosis gene, clinical symptoms vary widely, meaning that there are other factors that influence the course of the disease. Nutritional treatments have been used with success in treating many cystic fibrosis patients. These treatments include high protein-high caloric diets, pancreatic enzymes, and fat-soluble vitamins.

Phenylketonuria (PKU) - With the proper diet, people with this inherited disorder can live perfectly normal lives. Without diet therapy, many become brain damaged.

Folic Acid Deficiency Caused by Genes - Some segments of the population have genes that makes them more susceptible to folic acid deficiencies. Prenatal folic acid deficiencies are an established cause of birth defects such as spina bifida and cleft palates. As noted above, impaired folate metabolism has recently been implicated as a factor in Down syndrome.

Wilson's Disease - People with this inherited disorder have excess copper accumulate in their bodies. Zinc supplementation therapy is used to reduce copper levels and has been successful in treating the disorder. See my page on zinc for more links between health and zinc.)

Blue Sclera - A feature of a wide variety of connective tissue disorders including Ehlers-Danlos syndrome, osteogenesis imperfecta and Marfan syndrome. Most cases of blue sclera have been linked to iron deficiency.

Sulfocysteinuria - Also known as sulfite oxidase deficiency. Patients may respond well to a low sulfur diet. Interestingly, one of the features of sulfite oxidase deficiency is dislocated lenses. Dislocated lenses are also a feature of homocystinuria, another genetic disorder that responds to diet therapy. Perhaps this is an indication that the dislocated lenses in Marfan syndrome may also respond to nutritional therapy, too.

For many more examples of genetic disorders that respond to dietary therapy, link to the OMIM database at the National Institute of Health's Web site and search for "diet therapy".

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Prenatal Nutrition and Birth Defects

Cleft Palates - Reduced significantly through maternal supplementation of folic acid.

Spina Bifida - Reduced significantly through maternal supplementation of multivitamins with folic acid.

Cerebral Palsy - Recent research shows that very low birthweight babies have a lower incidence of cerebral palsy (CP) when their mothers are treated with magnesium sulfate soon before giving birth. The findings come from a study sponsored by the National Institute of Neurological Disorders and Stroke (NINDS) and the California Birth Defects Monitoring Program (CBDMP).

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Genetic Disorders, Birth Defects and Logic

If you search the OMIM database at the web site for the National Institutes' of Health, the sample of features listed below are each mentioned in the write-ups for a wide variety of genetic disorders, usually as features of the disorder.

Birth Defect or Feature

Number of genetic disorders in OMIM that reference the feature or birth defect

Mitral valve prolapse



Blue Sclera


Spina Bifida


Cleft palate
Both cleft palate and spina bifida
Both mitral valve prolapse and cleft palate
Both blue sclera and mitral valve prolapse

Studies show that these individual features of genetic disorders and syndrome are often caused, or at least associated with, nutritional deficits. Doesn't that logically imply that if some of the features of these syndromes are influenced by nutrition then the overall disorders and syndromes themselves may be influenced by nutrition, too?

At one time many genetic researchers were convinced that spina bifida was entirely a genetic disorder, yet we now know that almost all cases of spina bifida have been shown to be preventable if the mother gets adequate folic acid before and during her pregnancy. Recent studies are showing similar findings for cleft defects through multivitamins with folic acid. The folic acid study noted above shows that there is a genetic component to folic acid requirements, so it seems likely that spina bifida and cleft palates, like many other birth defects and genetic disorders, may have both a genetic and a nutritional component. Many other disorders that were once thought to be caused by single genes may actually be the results of a complex set of factors involving both nutrition and genes.

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General Information on Genes, Nutrition and Disease

Genes and Disease from the National Institute of Health - Excerpt - "One of the most difficult challenges ahead is to find genes involved in diseases that have a complex pattern of inheritance, such as those that contribute to diabetes, asthma, cancer and mental illness. In all these cases, no one gene has the yes/no power to say whether a person has a disease or not. It is likely that more than one mutation is required before the disease is manifest. A number of genes may each make a subtle contribution to a person's susceptibility to a disease; genes may also affect how a person reacts to environmental factors. Unraveling these networks of events will undoubtedly be a challenge for some time to come."

Two NIH Initiatives Launch Intensive Efforts to Determine Genetic and Environmental Roots of Common Diseases - " Genes alone do not tell the whole story. Recent increases in chronic diseases like diabetes, childhood asthma, obesity or autism cannot be due to major shifts in the human gene pool. They must be due to changes in the environment, including diet and physical activity, which may produce disease in genetically predisposed persons." from the National Institutes of Health web site.

Nutrigenomics from U.C. Davis - "The science of nutrigenomics seeks to provide a molecular understanding for how common dietary chemicals (i.e., nutrition) affect health by altering the expression and/or structure of an individual’s genetic makeup."

Your Lifestyle Tells Your Genes to Express Disease - an article from the American Chiropractor online site - "Our health habits must be commingled with our genes to determine the expression of disease."

The Environmental Genome Project - Excerpt -"Geneticists are making headlines almost daily as they decode the human genome. By the year 2005, it is expected that researchers will have most of the sequence data in hand. Yet genes are proving time and again to be only part of the complex disease picture, as many common diseases such as cancer, Alzheimer's disease, osteoporosis, and asthma are being shown to have crucial environmental elements."

Human Gene Therapy - Harsh Lessons, High Hopes. - "Gene therapy researchers were not following all of the federal rules requiring them to report unexpected adverse events associated with the gene therapy trials; worse, some scientists were asking that problems not be made public. And then came the allegations that there were other unreported deaths attributed to genetic treatments, at least six in all."

My comment in the above article: Maybe the reason the gene therapy trials have been such a disaster is that "bad genes" aren't really to blame for as many disorders as once thought.

A new scientific truth does not triumph by convincing its opponents and making them see the light, but rather because its opponents eventually die and a new generation grows up that is familiar with it. - Max Planck





Related sections of interest:

Links to Diet in Connective Tissue Disorders.

Genes may not be the only cause of Marfan Syndrome

Osteogenesis Imperfecta

Diet Help for EDS (Ehlers-Danlos Syndrome)

Pectus Excavatum Causes, FAQ, and Exercises

Could Hyaluronic Acid Help with Aging or Connective Tissue Disorders?

Wrinkled and Dry Skin - What you Eat May Make a Difference

Zinc Deficiency Symptoms


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