MYBPC3-c.772G   >  a mutation results in haploinsufficiency and altered myosin cycling kinetics in a patient induced stem cell derived cardiomyocyte model of hypertrophic cardiomyopathy

Approximately 40% of hypertrophic cardiomyopathy mutations are linked to the sarcomere protein cardiac myosin binding protein-C (cMyBP-C). These mutations are either classified as missense mutations or truncation mutations. One mutation whose nature has been inconsistently reported in the literature is the MYBPC3-c.772G  > A mutation. Using patient-derived human induced pluripotent stem cells differentiated to cardiomyocytes (hiPSC-CMs), we have performed a mechanistic study of the structure-function relationship for this MYBPC3-c.772G > A mutation versus a mutation corrected, isogenic cell line.

Source: Journal of Molecular and Cellular Cardiology - April 20, 2024 Category: Cytology Authors: Steczina Sonette, Saffie Mohran, Logan R.J. Bailey, Timothy S. McMillen, Kristina B. Kooiker, Neil B. Wood, Jennifer Davis, Michael J. Previs, Iacopo Olivotto, Jos è Manuel Pioner, Michael A. Geeves, Corrado Poggesi, Michael Regnier Source Type: research