Marfact #15, genes, and connective tissue disorders.

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #15: Marfan syndrome is caused by a defect (mutation) in the gene that tells the body how to make fibrillin‐1 ‐‐ a protein that is an important part of connective tissue.

While Marfan Syndrome affects connective tissue through it’s influence on fibrillin, the connective tissue faults found in Ehlers-Danlos Syndrome are instead due to mutations affecting the body’s collagen. Both fibrillin and collagen are very important in the function of our body’s connective tissue.

Also, connective tissue disorder causing genetic mutations have been found and identified on the gene that tells the body how to make fibrillin-2. This ties into what I was saying before about the complexity of our genes and connective tissue and how we’re still in the process of learning so much about both.

When I had my genetic test done they only looked for mutations affecting fibrillin-1. The test is pretty expensive and in my case the cost was only covered for that specific gene (and only after my aortic root started becoming enlarged). That’s one of the reasons that we weren’t overly surprised when the test came back negative.

For now I’m alright not having the test done on any of the other genes but it’s definitely something that may be worth considering more in the future.

Visit www.marfan.org for more information.

Know the signs; save a life.

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