NIH scientists discover molecular mechanisms behind PNPLA6-related neurodegenerative disorders, impacting lipid metabolism and neuron stability.

NIH scientists have discovered the molecular mechanisms behind PNPLA6-related neurodegenerative disorders, including those affecting vision. PNPLA6 gene mutations impair neuropathy target esterase (NTE) function, impacting lipid metabolism and membrane stability in neurons. The research, published in BRAIN, deepens understanding at genetic, clinical, and molecular levels, paving the way for tailored diagnostics and treatments.