Molecular change in Lysosomal storage disorder is
Correct Answer: Mutation of genes encoding lysosomal hydrolases
Description: Mutation(s) in a gene encoding a lysosomal hydrolase involved in the degradation of one or more GAGsAccumulation of substrate in various tissues, including liver, spleen, bone, skin, and central nervous systemDefective lysosomal hydrolaseThe metabolic block, as in the case of the mucolipidoses.Hyaluronidase is one impoant enzyme involved in the catabolism of both hyaluronic acid and chondroitin sulfate. It is a widely distributed endoglycosidase thatcleaves hexosaminidase linkages.From hyaluronic acid, the enzyme will generate a tetrasaccharide with the structure (GlcUAb-1,3-GlcNAc-b-1,4)2, which can be degraded fuher by a b-glucuronidase and b-N-acetylhexosaminidase.A genetic defect in hyaluronidase causes MPS IX, a lysosomal storage disorder in which hyaluronic acid accumulates in the joints
Category:
Biochemistry
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