title: MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction.
abstract: Mutations in MYBPC3 gene, encoding cardiac myosin-binding protein C (cMyBP-C), frequently cause hypertrophic cardiomyopathy (HCM), which affects 0.2 % of the general population. This myocardial autosomal-dominant disorder is the leading cause of sudden cardiac death particularly in young athletes. The current pharmacological and surgical treatments of HCM focus on symptoms relief, but do not address the cause of the disease. With the development of novel strategies targeting the endogenous mutation, causal HCM therapy is now possible. This review will discuss the current knowledge on HCM from the identification of MYBPC3 gene mutations to potential RNA-based correction.
authors: Department of Experimental Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.
authors: Verena
authors: V
authors: Behrens-Gawlik
authors: Giulia
authors: G
authors: Mearini
authors: Christina
authors: C
authors: Gedicke-Hornung
authors: Pascale
authors: P
authors: Richard
authors: Lucie
authors: L
authors: Carrier
mesh_terms: D000818:Animals; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000628:therapy*; D002352:Carrier Proteins / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000209:etiology / Q000517:prevention & control; D005091:Exons; D016368:Frameshift Mutation; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D051379:Mice; D016376:Oligonucleotides, Antisense / Q000627:therapeutic use; D012313:RNA / Q000235:genetics / Q000627:therapeutic use*; D017384:Sequence Deletion; D017381:Spliceosomes / Q000502:physiology; D020040:Trans-Splicing; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D016376:Oligonucleotides, Antisense; D012313:RNA; D000099163:Myosin Binding Protein C