SCIENCE

GENETIC DISEASES

Lysosomal storage disorders (LSDs)

 Several genetic diseases are caused by a deficiency in lysosomal enzymes.  These enzymes normally function to degrade different types of molecules.  When these enzymes are missing or reduced in activity, their substrates accumulate in lysosomes and lead to disease.  A subset of these lysosomal storage disorders (LSDs) are cause defects in the enzymes that degrade glycolipids including Gaucher disease, Fabry disease, and GM2 and GM1 gangliosidosis

Other genetic disease involving glycolipids

The dysregulation of glycolipid metabolism plays roles in other genetic diseases besides the lysosomal disorders.  For examples, in polycystic kidney disease (PKD), the elevation of glycosphingolipids (GSLs) contributes to inflammatory and proliferative processes that drive cyst growth and progression to end stage kidney disease.  Glycosphingolipids have also been implicated in a subset of Parkinson’s Disease patients that are carriers of mutations in GBA (GBA-PD)In these individuals accumulated glycolipids are thought to promote the aggregation and production of pathogenic forms of the protein alpha-synuclein.

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