The Alternative Heart: Impact of Alternative Splicing in Heart Disease

被引：70
|
作者：
Lara-Pezzi, Enrique [1 ]
Gomez-Salinero, Jesus [1 ]
Gatto, Alberto [1 ]
Garcia-Pavia, Pablo [2 ]
机构：
[1] Ctr Nacl Invest Cardiovasc, Cardiovasc Dev & Repair Dept, Madrid 28029, Spain
[2] Hosp Univ Puerta Hierro Majadahonda, Dept Cardiol, Madrid, Spain
来源：
JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH | 2013年 / 6卷 / 06期
关键词：
Alternative splicing; Molecular cardiology; Sarcomere; Cell signalling; Ion channels; Antisense oligonucleotides; CARDIAC TROPONIN-T; PRE-MESSENGER-RNA; UNFOLDED PROTEIN RESPONSE; BINDING-PROTEIN; DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; MYOTONIC-DYSTROPHY; PASSIVE STIFFNESS; ALPHA-TROPOMYOSIN; CHLORIDE CHANNEL;
D O I：
10.1007/s12265-013-9482-z
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Alternative splicing is the main driver of protein diversity and allows the production of different proteins from each gene in the genome. Changes in exon exclusion, intron retention or the use of alternative splice sites can alter protein structure, localisation, regulation and function. In the heart, alternative splicing of sarcomeric genes, ion channels and cell signalling proteins can lead to cardiomyopathies, arrhythmias and other pathologies. Also, a number of inherited conditions and heart-related diseases develop as a result of mutations affecting splicing. Here, we review the impact that changes in alternative splicing have on individual genes and on whole biological processes associated with heart disease. We also discuss promising therapeutic tools based on the manipulation of alternative splicing.
引用
收藏
页码：945 / 955
页数：11
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