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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.
Sandhoff disease (SD) is a lysosomal storage disorder caused by deficiency in the β subunit of the β-hexosaminidase enzyme. Here, the authors show via bone marrow-based microglial replacement in a SD mouse model that myeloid-derived β-hexosaminidase is necessary for maintaining neuronal health.
Circadian rhythms gene Per2 regulates microglial ferroptosis through the PPARα-GPX4 axis in SCI, which indicates that Per2 may be emerging as a potential therapeutic target for SCI treatment.
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.
