Muscle health depends on lipid synthesis: Research


Researchers at the Institute of Molecular Biotechnology (IMBA) of the Austrian Academy of Sciences characterize how the enzyme PCYT2 affects muscle health in disease and aging in laboratory mouse models. The findings are published on in Nature Metabolism. Muscle degeneration in inherited diseases and aging affects hundreds of millions of people worldwide. Degeneration of skeletal muscles, the body’s protein reservoir, leads to general physiological decline, a condition called frailty. Now, a research team led by Domagoj Cikes at IMBA and Josef Penninger at IMBA and the University of British Columbia (UBC) uncover the central role of an enzyme called PCYT2 in muscle health. PCYT2 is known as the bottleneck enzyme in a major synthesis pathway of ethanolamine-derived phospholipids, the phosphatidylethanolamines (PEs). Based on patient data and using laboratory mouse and zebrafish models, they show that mutations affecting PCYT2, or its reduced activity, are conserved hallmarks of muscle degeneration across vertebrates.