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

被引：0
作者：
Verena Behrens-Gawlik
Giulia Mearini
Christina Gedicke-Hornung
Pascale Richard
Lucie Carrier
机构：
[1] University Medical Center Hamburg—Eppendorf,Department of Experimental Pharmacology and Toxicology, Cardiovascular Research Center
[2] DZHK (German Centre for Cardiovascular Research),Institute of Cardiometabolism and Nutrition (ICAN)
[3] AP-HP,undefined
[4] Hôpitaux Universitaires de la Pitié Salpêtrière—Charles Foix,undefined
[5] UF Cardiogénétique et Myogénétique,undefined
[6] Service de Biochimie Métabolique,undefined
[7] UPMC Université Paris 06,undefined
[8] UMR 956,undefined
[9] IFR14,undefined
[10] Hôpitaux Universitaires de la Pitié Salpêtrière—Charles Foix,undefined
[11] Inserm,undefined
[12] U974,undefined
[13] Université Pierre et Marie Curie—Paris 06,undefined
[14] UM 76,undefined
[15] CNRS,undefined
[16] UMR 7215,undefined
[17] Institut de Myologie,undefined
[18] IFR14,undefined
来源：
Pflügers Archiv - European Journal of Physiology | 2014年 / 466卷
关键词：
mutations; Haploinsufficiency; Poison peptide; Exon skipping; Exon inclusion; Spliceosome-mediated RNA ; -splicing;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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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页码：215 / 223
页数：8
相关论文
共 515 条
[41]  
Labeit S(2013)How do MYBPC3 mutations cause hypertrophic cardiomyopathy? Mol Ther Nucleic Acids 2 e102-1402
[42]  
Bouhour JB(2012)Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency Circ Heart Fail 5 635-83
[43]  
Dubourg O(2005)Repair of Mybpc3 mRNA by 5′- Hum Mol Genet 14 3587-638
[44]  
Desnos M(2000)-splicing in a mouse model of hypertrophic cardiomyopathy Circulation 101 1396-126
[45]  
Hagege AA(2011)In vivo cardiac Myosin binding protein C gene transfer rescues myofilament contractile dysfunction in cardiac Myosin binding protein C null mice J Invest Dermatol 131 74-2232
[46]  
Trent RJ(2008)A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy Mayo Clin Proc 83 630-A89
[47]  
Komajda M(2012)A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance Mol Ther 20 119-3273
[48]  
Fiszman M(2011)Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa Sci Transl Med 3 92ra64-15664
[49]  
Schwartz K(2003)Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy Circulation 107 2227-482
[50]  
Carrier L(2006)Bifunctional RNAs targeting the intronic splicing silencer N1 increase SMN levels and reduce disease severity in an animal model of spinal muscular atrophy J Am Coll Cardiol 48 A79-13
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