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

Article ID	Journal	Published Year	Pages	File Type
5905271	Gene	2015	41 Pages	PDF

Abstract

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.

Keywords

cardiomyopathies HCM CK2 LMM Chr GSK3β IPSC PKC MYH7 PKD AAV EHT pKa CaMKII LVNC RNS TnnT2 cMyBP-c Cardiac myosin-binding protein C DCM KTR MYBPC3 CRISPR PTM TPM1 Ca2+Ca2+/Calmodulin-dependent kinase II light meromyosin antisense oligonucleotide ROS posttranslational modification engineered heart tissue clustered regularly interspaced short palindromic repeats base pair induced-pluripotent stem cell ubiquitin–proteasome system Left ventricular non-compaction Adeno-associated virus protein kinase D Protein kinase C cAMP-dependent protein kinase Gene therapy Dilated cardiomyopathy Hypertrophic cardiomyopathy Casein kinase 2 Chromosome calcium reactive nitrogen species Reactive oxygen species UPS AON