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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