More than 50% of cases of classical Ehlers-Danlos
syndrome (EDS) are caused by mutations in the COL5A1 gene. Many of
these mutations lead to a non-functional/absent pro-alpha1 (V) chain. As a
result, type V collagen fibrils in the skin and other tissues cannot be
assembled correctly. The fibrils are disorganized and larger than usual.
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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