Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology.

Published on Dec 1, 2015in Gene2.64
· DOI :10.1016/j.gene.2015.09.008
Lucie Carrier43
Estimated H-index: 43
(UHH: University of Hamburg),
Giulia Mearini16
Estimated H-index: 16
(UHH: University of Hamburg)
+ 1 AuthorsFriederike Cuello6
Estimated H-index: 6
(UHH: University of Hamburg)
Abstract More than 350 individual MYPBC3 mutations have been identified in patients with inherited hypertrophic cardiomyopathy (HCM), thus representing 40–50% of all HCM mutations, making it the most frequently mutated gene in HCM. HCM is considered a disease of the sarcomere and is characterized by left ventricular hypertrophy, myocyte disarray and diastolic dysfunction. MYBPC3 encodes for the thick filament associated protein cardiac myosin-binding protein C (cMyBP-C), a signaling node in cardiac myocytes that contributes to the maintenance of sarcomeric structure and regulation of contraction and relaxation. This review aims to provide a succinct overview of how mutations in MYBPC3 are considered to affect the physiological function of cMyBP-C, thus causing the deleterious consequences observed in HCM patients. Importantly, recent advances to causally treat HCM by repairing MYBPC3 mutations by gene therapy are discussed here, providing a promising alternative to heart transplantation for patients with a fatal form of neonatal cardiomyopathy due to bi-allelic truncating MYBPC3 mutations.
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