The Links to Copper Deficiency
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A significant portion of the symptoms of Marfan syndrome, and to a lesser extent some the other inherited connective tissue disorders, are identical to symptoms of copper deficiency. Geneticists believe that Marfan syndrome is caused solely by a genetic defect. But is it? Just because a disorder is inherited does not automatically exclude nutrition from playing a role in the manifestations of its symptoms. There are a wide variety of inherited disorders that are treatable through nutrition, including homocystinuria, a disorder with overlapping features to Marfan syndrome.
Each section below references a connective
tissue disorder feature that medical studies have linked in some way to
copper. Marfan syndrome and copper deficiencies share many similarities.
Copper deficiency is the major known cause of aortic aneurysms in a wide
variety of animals, and evidence strongly links it to aortic aneurysms
in humans. Copper deficiency is also known to cause emphysema in
animals and has been suggested as a factor in emphysema in humans. Both
aortic aneurysms and emphysema are associated with Marfan syndrome.
Although the data is less direct, dislocated
lenses, another unusual feature of Marfan syndrome, may also have a link
to copper deficiencies.
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Emphysema, in nonsmokers, has been linked to Marfan's syndrome. Pneumothorax, another lung disorder, is also linked to Marfan syndrome. In animal studies, copper deficiency has produced emphysema like changes in the lungs of rats, mice and pigs. Tap water with high copper levels is associated with improved lung function in humans. Perhaps a copper deficiency is a factor in human emphysema including the nonsmoking emphysema found frequently in Marfan syndrome.
Desmosine is an amino acid specific to elastin. Desmosine content in urine is used to measure degradation of elastin content in the body. Copper is one of the factors known to influence elastin. Studies show Marfans have low desmosine content in their urine, providing another clue that perhaps copper may play a role in the syndrome.
Premature babies at high risk
for lung injuries often have
low desmosine content in their urine. In the babies, the condition
is thought to occur as a result of nutritional deficiencies. Perhaps
a nutritional deficiency is also what causes the low desmosine content
Studies show there are a large number of environmental factors that influence desmosine content in urine including diet, smoking and medications. Copper, because of its role in elastin, is likely to be one of these variables. Desmosine content in urine is used to judge the success or failure of lung medications, because of its role as a marker for elastin degradation. Food items such as protein and calf ligamentum nuchae, have been shown to alter urinary desmosine content in human and animal studies.
If urinary desmosine levels can be improved through nutrition in these other studies not specifically related to Marfan's syndrome, then perhaps the low desmosine levels found in Marfan syndrome could also be improved through nutrition. It would seem like a highly promising area to study.
Aortae in Marfans with aneurysms show abnormal elastin. This same change may be found in people without Marfan syndrome who also have aortic aneurysms. Perhaps the reason Marfans get aneurysms is the same, or similar, to the reason that non-Marfan get aneurysms. Perhaps it is just that Marfans have a genetic predisposition, rather than an incurable genetic disorder, that causes them to develop aneurysms more readily than others.
It has been noted that Marfans have reduced desmosine content in their aortae. A study from Czechoslovakia demonstrated that rats fed diets with flounder oil had increases in the desmosine content of their aortae. Perhaps Marfan aortae could also be influenced through nutrition.
One of the heart medications found to be effective in Marfan syndrome is Propranolol. Propranolol stimulates lysyl oxidase. As noted earlier, lysyl oxidase is a copper dependent enzyme responsible for elastin and collagen crosslinking. Propranolol given to aneurysm prone turkeys improved their conditions. In separate studies on turkeys, as shown in the table above, copper supplementation has also been shown to reduce aneurysms in turkeys. This is not surprising, because like Propranolol, copper influences lysyl oxidase activity.
Marfans with aneurysms respond to Propranolol, just like the turkeys with aneurysms respond to Propranolol. Turkeys with aneurysms also respond to copper. Would Marfans respond to copper, too? It is unfortunate that there has not been any research in this area as of this writing.
researchers have a mouse model, the blotchy mouse, that develops emphysema
and aortic aneurysms - two of the same conditions Marfans develop. The
blotchy mouse has a defect in copper
metabolism, which causes reduced activity in copper dependent enzymes.
The blotchy mouse, like the aneurysm prone turkeys, also responds to Propranolol.
Marfans have a genetic defect and respond to Propranolol. Perhaps Marfans,
like the blotchy mouse, also have a genetic defect of copper metabolism.
would be a logical area to research.
Return to Marfan Syndrome main section.
Related sections of interest:
Fibrillin - Does it Really Cause Marfan Syndrome?
For more information on the links between copper and aneurysms, emphysema and a number of other health problems, see Charles Weber's web site on Copper. His site includes a lot of dietary information about the mineral.
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