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Mapping the causal chain from genetic risk variants to lipid dysmetabolism in Parkinsons disease

2025-07-15 neurology Title + abstract only
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Risk variants in multiple genes, including GBA1, strongly implicate lipid metabolism in Parkinsons disease (PD) onset and progression. We show that common PD risk variants at the serine palmitoyltransferase small subunit B (SPTSSB) locus, a key regulator of de novo sphingolipid biosynthesis, are associated with increased SPTSSB brain expression and elevated plasma ceramides. Additional analyses strongly support our hypothesis that a common SPTSSB causal variant is responsible for PD risk as well...

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