Unmasking Supervillin: SVIL haploinsufficiency causes hypertrophic cardiomyopathy by impairing mechanotransduction and cellular energetics.
Yifan Joshua Li, Yiangos Psaras, Violetta Steeples, Josephine M Watkins, Charlotte L. Hooper, Marta Moya‐Jódar, T. NICOL, Alexander J. Sparrow, Marcos Garcia-Lacarte, S H Jones, Isabelle Bond, Niklas Beyhoff, Paul Robinson, Marieluise Kirchner, Philipp Mertins, , Christopher N. Toepfer
This study identifies SVIL haploinsufficiency as a cause of hypertrophic cardiomyopathy by impairing mechanotransduction and cellular energetics, with potential therapeutic implications for mitochondrial-targeted treatments.
bioRxiv · Jul 24, 2026 · PreprintCell Biology