Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease.

摘要: Sandhoff disease is a progressive neurodegenerative disorder caused by mutations in the HEXB gene which encodes for β-subunit of β-hexosaminidase A and B, resulting ganglioside GM2 accumulation brain. We now demonstrate that phospholipid metabolism altered both cultured neurons brain tissue from mouse model disease, Hexb–/– mouse. Metabolic labelling using [methyl-14C]choline l-[3-3H]serine demonstrated reduced incorporation into phospholipids but not liver or spleen. Phospholipid mass was also The activities CTP : phosphocholine cytidylyltransferase (CCT) phosphatidylserine synthase were mice, probably because post-translational modification as no changes observed levels enzyme expression. relevance these findings to human patients strengthened observations made over 30 years ago on autopsy Tay Sachs patients, observed. suggest are simply loss neuronal result degeneration rather may cause degeneration, we discuss possible effects could play neuropathophysiology disease.