Marfan Syndrome

• Fibrillin Genes and Marfan Syndrome

• Marfan Syndrome and Possible Links to Nutrition

   

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  Fibrillin Genes and Marfan Syndrome

Most researchers say that Marfan syndrome (MFS) is caused by a mutation in the gene for fibrillin (specifically the fibrillin-1, or FBN1 gene). However, recent studies show that most people with Marfan syndrome (72%) have not been found to have fibrillin mutations. Recent studies also show that many people who do not have the disorder also have fibrillin mutations.

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  Marfan Syndrome and Possible Links to Nutrition

There are many symptoms of Marfan syndrome that are identical to symptoms of nutritional deficiencies.  Is this a random coincidence, or could genetic predispositions to be low in certain nutrients be factors for people with Marfan syndrome? Homocystinuria has many identical features to Marfan syndrome including the Marfanoid habitus, dislocated lenses and fibrillin abnormalities. Besides genes, environmental factors such as diet, vitamins and drugs are known to influence the course of homocystinuria. People with MFS are often treated successfully with drugs. As such, it would be highly logical to consider that in addition to genes and drugs, symptoms of Marfan syndrome, like symptoms of homocystinuria, may also be influenced by alternative medicine treatments including vitamin and/or dietary therapy.

Aortic aneurysms are a key feature of Marfan syndrome. There are many studies linking copper deficiencies in humans and animals (turkeys, chickens, ostriches, waterfowl, rats, mice, pigs, cows and guinea pigs) to aortic aneurysms. Research has found that some animals develop aortic aneurysms because they have a genetic predisposition (not an incurable disorder) to be low in copper. Aneurysms in these animals are often reduced when they are fed a diet with sufficient copper. Interestingly, it has been noted that the symptoms of Mafan syndrome were similar to those of copper deficiency in chicks. Unfortunately, I couldn't find any studies of anyone ever actually testing people with Marfan syndrome for copper deficiencies. It would be a highly logical area to research.

Perhaps MFS, like many other genetic disorders, also has a nutritional component. The table below highlights some interesting potential links between Marfan syndrome and dietary factors, including a big section on the similarities between the disorder and copper deficiencies. With the many similarities between Marfan syndrome and nutritional deficiencies, it is unfortunate that there has not been much research in this area. Perhaps, like many other disorders once thought to be caused by genes alone, diet may also play a role in MFS.

Each Symptom of MFS has a Possible Nutritional Link

Connective Tissue Disorders: The Overlaps and Links to Nutrition - This section covers how many of the features of Marfan syndrome are similar to many of the other features of connective tissue disorders. It provides some logical reasons that may explain why people with MFS have such diverse features as small jaws, mitral valve prolapse and highly arched palates.

Related Links -

Marfan syndrome, magnesium status and medical prevention of cardiovascular complications by hemodynamic treatments and antisense gene therapy.

Living with Marfan syndrome - a personal web page.

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