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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