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

页码：945 / 955

页数：11

共 50 条

[21] Alternative splicing signatures of congenital heart disease and induced pluripotent stem cell-derived cardiomyocytes from congenital heart disease patients
Xu, Xiang
Zou, Renchao
Liu, Xiaoyong
Su, Qianqian
MEDICINE, 2022, 101 (33) : E30123
[22] Alternative splicing in disease and therapy
Mariano A Garcia-Blanco
Andrew P Baraniak
Erika L Lasda
Nature Biotechnology, 2004, 22 : 535 - 546
[23] Editorial on Alternative Splicing and Disease
Barta, Andrea
Schuemperli, Daniel
RNA BIOLOGY, 2010, 7 (04) : 388 - 389
[24] Alternative splicing in disease and therapy
Garcia-Blanco, MA
Baraniak, AP
Lasda, EL
NATURE BIOTECHNOLOGY, 2004, 22 (05) : 535 - 546
[25] Alternative splicing and liver disease
Baralle, Marco
Baralle, Francisco E.
ANNALS OF HEPATOLOGY, 2021, 26
[26] Alternative Hypothesis to Explain Disease Progression in Rheumatic Heart Disease
Karthikeyan, Ganesan
Fung, Erik
Foo, Roger S. -Y.
CIRCULATION, 2020, 142 (22) : 2091 - 2094
[27] The Functional Impact of Alternative Splicing in Cancer
Climente-Gonzalez, Hector
Porta-Pardo, Eduard
Godzik, Adam
Eyras, Eduardo
CELL REPORTS, 2017, 20 (09): : 2215 - 2226
[28] The impact of microRNAs and alternative splicing in pharmacogenomics
Passetti, F.
Ferreira, C. G.
Costa, F. F.
PHARMACOGENOMICS JOURNAL, 2009, 9 (01): : 1 - 13
[29] The impact of microRNAs and alternative splicing in pharmacogenomics
F Passetti
C G Ferreira
F F Costa
The Pharmacogenomics Journal, 2009, 9 : 1 - 13
[30] Impact of Alternative Splicing on the Human Proteome
Liu, Yansheng
Gonzalez-Porta, Mar
Santos, Sergio
Brazma, Alvis
Marioni, John C.
Aebersold, Ruedi
Venkitaraman, Ashok R.
Wickramasinghe, Vihandha O.
CELL REPORTS, 2017, 20 (05): : 1229 - 1241

← 1 2 3 4 5 →