Hi Friends,
I became a little busy with my
personal stuff, but now I am back in action J
Currently I am researching on a very
strange disease. I will beck with that soon J
Till then thank you for your
patience.
Wednesday, August 28, 2013
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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