Wednesday, June 26, 2013

How PLOD1 Gene Cause EDS?

More than 20 mutations have been identified in the PLOD1 gene which causes Kyphoscoliosis Types of EDS. The most common mutation duplicates a large portion of the gene, resulting in the production of a non-functional version of the ‘lysyl hydroxylase 1’ enzyme. Several other mutations introduce premature stop signals that prevent the gene from making any functional enzyme. A loss of lysyl hydroxylase 1 activity impairs cross-linking between collagen molecules. This disruption in the network of collagen fibrils weakens connective tissues, causing the signs and symptoms of Ehlers-Danlos syndrome.



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