The Role of Cardiac Myosin Binding Protein C3 in Hypertrophic Cardiomyopathy-Progress and Novel Therapeutic Opportunities

被引：20

作者：

Mohamed, Iman A. ^{[1
]}

Krishnamoorthy, Navaneethakrishnan T. ^{[2
,3
]}

Nasrallah, Gheyath K. ^{[4
,5
]}

Da'as, Sahar I. ^{[2
,6
]}

机构：

[1] Zewail City Sci & Technol, Dept Biomed Sci, Giza, Egypt

[2] Sidra Med & Res Ctr, Div Expt Genet, Doha, Qatar

[3] Imperial Coll London, Natl Heart & Lung Inst, Heart Sci Ctr, London, England

[4] Qatar Univ, Coll Hlth Sci, Dept Biomed Sci, Doha, Qatar

[5] Qatar Univ, Biomed Res Ctr, Doha, Qatar

[6] Hamad Bin Khalifa Univ, Dept Biomed & Biol Sci, POB 5825, Doha, Qatar

来源：

JOURNAL OF CELLULAR PHYSIOLOGY | 2017年 / 232卷 / 07期

关键词：

UBIQUITIN-PROTEASOME SYSTEM; ENGINEERED HEART-TISSUE; MESSENGER-RNA DECAY; MYBPC3; MUTATION; CONTRACTILE DYSFUNCTION; GENE-THERAPY; MOUSE MODEL; C1; DOMAIN; MICE; HAPLOINSUFFICIENCY;

D O I：

10.1002/jcp.25639

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Hypertrophic cardiomyopathy (HCM) is a common autosomal dominant genetic cardiovascular disorder marked by genetic and phenotypic heterogeneity. Mutations in the gene encodes the cardiac myosin-binding protein C, cMYBPC3 is amongst the various sarcomeric genes that are associated with HCM. These mutations produce mutated mRNAs and truncated cMyBP-C proteins. In this review, we will discuss the implications and molecular mechanisms involved in MYBPC3 different mutations. Further, we will highlight the novel targets that can be developed into potential therapeutics for the treatment of HMC. J. Cell. Physiol. 232: 1650-1659, 2017. (c) 2016 Wiley Periodicals, Inc.

引用

页码：1650 / 1659

页数：10

共 62 条

[1] Dissecting the N-terminal myosin binding site of human cardiac myosin-binding protein C - Structure and myosin binding of domain C2 [J].

Ababou, Abdessamad ;

Gautel, Mathias ;

Pfuhl, Mark .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2007, 282 (12) :9204-9215

[2] Myosin Binding Protein C Positioned to Play a Key Role in Regulation of Muscle Contraction: Structure and Interactions of Domain C1 [J].

Ababou, Abdessamad ;

Rostkova, Elena ;

Mistry, Shreena ;

Le Masurier, Clare ;

Gautel, Mathias ;

Pfuhl, Mark .

JOURNAL OF MOLECULAR BIOLOGY, 2008, 384 (03) :615-630

[3]

[Anonymous], 2013, J NANOMATERIALS, DOI DOI 10.1371/J0URNAL.P0NE.0070324

[4] Ubipuitin-Proteasome System Impairment Caused by a Missense Cardiac Myosin-binding Protein C Mutation and Associated with Cardiac Dysfunction in Hypertrophic Cardiomyopathy [J].

Bahrudin, Udin ;

Morisaki, Hiroko ;

Morisaki, Takayuki ;

Ninomiya, Haruaki ;

Higaki, Katsumi ;

Nanba, Eiji ;

Igawa, Osamu ;

Takashima, Seiji ;

Mizutas, Einosuke ;

Miake, Junichiro ;

Yamamoto, Yasutaka ;

Shirayoshi, Yasuaki ;

Kitakaze, Masafumi ;

Carrier, Lucie ;

Hisatome, Ichiro .

JOURNAL OF MOLECULAR BIOLOGY, 2008, 384 (04) :896-907

[5] Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice [J].

Barefield, David ;

Kumar, Mohit ;

Gorham, Joshua ;

Seidman, Jonathan G. ;

Seidman, Christine E. ;

de Tombe, Pieter P. ;

Sadayappan, Sakthivel .

JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2015, 79 :234-243

[6] Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy [J].

Barefield, David ;

Kumar, Mohit ;

de Tombe, Pieter P. ;

Sadayappan, Sakthivel .

AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY, 2014, 306 (06) :H807-H815

[7] Phosphorylation and function of cardiac myosin binding protein-C in health and disease [J].

Barefield, David ;

Sadayappan, Sakthivel .

JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2010, 48 (05) :866-875

[8] MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction [J].

Behrens-Gawlik, Verena ;

Mearini, Giulia ;

Gedicke-Hornung, Christina ;

Richard, Pascale ;

Carrier, Lucie .

PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 2014, 466 (02) :215-223

[9] Mechanical Unloading Activates FoxO3 to Trigger Bnip3-Dependent Cardiomyocyte Atrophy [J].

Cao, Dian J. ;

Jiang, Nan ;

Blagg, Andrew ;

Johnstone, Janet L. ;

Gondalia, Raj ;

Oh, Misook ;

Luo, Xiang ;

Yang, Kai-Chun ;

Shelton, John M. ;

Rothermel, Beverly A. ;

Gillette, Thomas G. ;

Dorn, Gerald W., II ;

Hill, Joseph A. .

JOURNAL OF THE AMERICAN HEART ASSOCIATION, 2013, 2 (02) :e000016

[10] Hypertrophic Cardiomyopathy: How do Mutations Lead to Disease? [J].

Carneiro Marsiglia, Julia Daher ;

Pereira, Alexandre Costa .

ARQUIVOS BRASILEIROS DE CARDIOLOGIA, 2014, 102 (03) :295-303

← 1 2 3 4 5 6 7 →