MYBPC3 Mutations cause Hypertrophic Cardiomyopathy by Dysregulating Myosin: Implications for Therapy
Christopher N. Toepfer, Hiroko Wakimoto, Amanda C. Garfinkel, Barbara A. McDonough, Dan Liao, Jianming Jiang, Angela C. Tai, Josh M. Gorham, Ida Gjervold Lunde, Mingyue Lun, Thomas L. Lynch, Sakthivel Sadayappan, Charles S Redwood, Hugh C Watkins, Jonathan G. Seidman, Christine E. Seidman
The paper shows that MYBPC3 mutations disrupt myosin relaxation states, leading to hyper-contractility in HCM, and that targeting myosin can alleviate these effects.
bioRxiv · Apr 18, 2018 · PreprintGenetics