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Lipid-storage diseases are a group of disorders characterized by excessive accumulation of lipids due to inherited abnormalities in lipid metabolism. Excessive lipid deposition eventually causes damage to the cells and tissues, resulting in neurodegeneration and often also heart, liver, spleen and kidney problems.
A combination of Drosophila dGBA1b loss-of-function models and Gaucher Disease (GD) patient-derived iPSCs reveals an impairment in GD neuronal cell growth and that Hippo pathway hyperactivation contributes to the impairment.
Lysosomal phospholipase A2 (LPLA2) is the PG to LPG converting enzyme in the BMP biosynthetic pathway, and changes in LPLA2 levels in cells affect cholesterol levels and late endosome/lysosome morphology.
A study shows that, in a mouse model of neuronopathic Gaucher disease, delivery of a gene therapy into the brains of fetal animals prevents neurodegeneration, ameliorates associated neuroinflammation and promotes survival.
Lysosomal acid lipase deficiency can lead to liver failure and early death. A recently published placebo-controlled trial shows that enzyme-replacement therapy improves plasma levels of lipids and aminotransferases, and reduces liver fat content. However, the effect on clinical end points and an appropriate indication for treatment remain to be established.