Thursday, August 1, 2013

How ADAMTS2 Gene Cause EDS?

Mutation in the ADAMTS2 gene is responsible for 'Dermatosparaxis Types' of Ehlers-Danlos syndrome (EDS). These mutations greatly reduce the production/activity of the enzyme made by the ADAMTS2 gene. 

Procollagens cannot be processed correctly without this enzyme. As a result, collagen fibrils are not assembled properly they appear ribbon-like and disorganized under the microscope. Cross-links, or chemical interactions, between collagen fibrils are also disrupted. These defects weaken connective tissue (the tissue that binds and supports the body's muscles, ligaments, organs, and skin), which leads to the signs and symptoms of the EDS.

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