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Marfan Syndrome

The Links to Copper Deficiency


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Features Common to Both Marfan Syndrome and Copper Deficiency 

Indications That Marfan Syndrome May Be Affected by Nutrition 


Features Common to Both Marfan Syndrome and Copper Deficiencies 

Copper is a trace mineral found in all body tissues.  It is vital in making elastin, a chief component of the elastic muscle fibers found throughout the body, especially in the heart and lungs.  It is needed to build strong bones, connective tissue and joints.  Copper is needed for the proper function of the enzyme lysyl oxidase, which is required in the crosslinking of collagen and elastin.  

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.

Copper Deficiency  
Studies in 
Humans and Animals  

Marfan Syndrome and Related Connective Tissue Disorder Symptoms

Emphysema in mice 

Copper levels in tap water and lung function 
Emphysema in pigs 

Emphysema in rats 

Ruptured aortic aneurysm in mice 

Aortic ruptures in turkeys,  
ostriches, chickens and waterfowl  

Aortic rupture in ostriches 

Cardiac aneurysms in rats 

Aortic aneurysms in rats  

Ventricular aneurysm, hemothorax, cardiac rupture  in rats  

Aortic rupture in turkeys 

Dissecting aneurysms in chicks 

Aneurysms in humans 

Ruptured aortic aneurysms  

Aortic aneurysms  

Dissecting aneurysms  

Abdominal aortic aneurysms 

Decline of elastin synthesis 
in aortae of chicks 

Less elastin in aortae 
of chicks  

Copper enhanced elastin content in turkey aortae, deficiencies caused aortic  ruptures  

Reduced elastin content in Marfan in aortae 

Another study showing reduced elastin in Marfan aortae

Osteoporosis in humans 

Osteoporosis in lambs 

  Scoliosis in chickens   Scoliosis
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Indications That Marfan Syndrome May Be Affected by Nutrition 

We must always think about things, and we must think about things as they are, and not as they are said to be. 

George Bernard Shaw

Lung Disorders, Emphysema, Elastin, Desmosines and Nutrition 

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 in Marfans.

The words "question" and quest are cognates.  Only through inquiry can we discover the truth.  Carl Sagan 
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.


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Aneurysms, Elastin, Desmosines and Nutrition 

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.


Commonalties of Turkeys and Blotchy Mouse With Genetic Defects of Copper Metabolism and Marfan Syndrome

Blotchy Mouse


Aneurysm prone
Defect of Copper Metabolism
Treated with Propranolol (which stimulates a copper dependent enzyme)

Emphysema 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. It would be a logical area to research.
Copper deficiency has been known to cause aortic aneurysms in mice, rats, turkeys, ostriches, chickens and waterfowl. Interestingly, the similarity between the aortic pathology in Marfan's syndrome and copper deficiency in chicks was noted by researchers as far back as 1980.
In a study of humans that died from aortic aneurysms, the subjects were found to only have 26% of normal copper levels. Based on this evidence, it would be highly promising to find out what the average copper levels are in Marfans, especially in Marfans who have aneurysms.

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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