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MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction |
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| Authors: | Verena Behrens-Gawlik Giulia Mearini Christina Gedicke-Hornung Pascale Richard Lucie Carrier |
| Affiliation: | 1. Department of Experimental Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg—Eppendorf, Martinistra?e 52, 20246, Hamburg, Germany 2. DZHK (German Centre for Cardiovascular Research), Partner Site Hamburg/Kiel/Lübeck, Germany 3. AP-HP, H?pitaux Universitaires de la Pitié Salpêtrière—Charles Foix, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Paris, 75013, France 4. UPMC Université Paris 06, UMR 956, IFR14, Paris, 75013, France 5. Institute of Cardiometabolism and Nutrition (ICAN), H?pitaux Universitaires de la Pitié Salpêtrière—Charles Foix, Paris, 75013, France 6. Inserm, U974, Paris, 75013, France 7. Université Pierre et Marie Curie—Paris 06, UM 76, CNRS, UMR 7215, Institut de Myologie, IFR14, Paris, 75013, France |
| 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. |
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