MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction

Pflügers Archiv : European journal of physiology
Verena Behrens-GawlikL Carrier

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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Citations

Sep 12, 2015·Gene·Lucie CarrierFriederike Cuello
Apr 26, 2016·Journal of Molecular and Cellular Cardiology·Paul J M WijnkerLucie Carrier
Oct 13, 2015·Journal of Molecular and Cellular Cardiology·Sabine J van DijkSamantha P Harris
Dec 3, 2014·Nature Communications·Giulia MeariniLucie Carrier
Mar 2, 2018·Journal of Clinical Laboratory Analysis·Nejat MahdiehAzin Alizadeh-Asl
Oct 13, 2017·Circulation. Heart Failure·Sonia R SinghLucie Carrier
Jan 31, 2015·Cardiovascular Research·Jil C TardiffJolanda van der Velden
Jul 5, 2018·Pflügers Archiv : European journal of physiology·Maksymilian ProndzynskiLucie Carrier
Oct 14, 2020·Journal of Molecular and Cellular Cardiology·Lucie Carrier
Dec 18, 2020·Frontiers in Cardiovascular Medicine·Apurva ShrivastavaChristian Schulte

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