Thursday, June 13, 2013

How COL5A2 Gene Cause EDS?

Mutations in the COL5A2 gene have been identified in a small number of patients with classic Ehlers-Danlos syndrome (EDS). These mutations change the structure and function of the pro-alpha2 (V) chain. As a result, type V collagen fibrils in the skin which are assembled with the altered protein are large and irregular.

Research is going on how these changes in collagen structure cause the signs and symptoms of classical Ehlers-Danlos syndrome (EDS).

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