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
相关论文
共 50 条
  • [41] Alternative splicing interference by xenobiotics
    Zaharieva, Emanuela
    Chipman, J. Kevin
    Soller, Matthias
    TOXICOLOGY, 2012, 296 (1-3) : 1 - 12
  • [42] Alternative RNA Splicing in the Pathogenesis of Liver Disease
    Webster, Nicholas J. G.
    FRONTIERS IN ENDOCRINOLOGY, 2017, 8
  • [43] Alternative splicing of RAGE: roles in biology and disease
    Kalea, Anastasia Z.
    Schmidt, Ann Marie
    Hudson, Barry I.
    FRONTIERS IN BIOSCIENCE-LANDMARK, 2011, 16 : 2756 - 2770
  • [44] Splicing: is there an alternative contribution to Parkinson’s disease?
    Valentina La Cognata
    Velia D’Agata
    Francesca Cavalcanti
    Sebastiano Cavallaro
    neurogenetics, 2015, 16 : 245 - 263
  • [45] Muscle-Specific Mis-Splicing and Heart Disease Exemplified by RBM20
    Rexiati, Maimaiti
    Sun, Mingming
    Guo, Wei
    GENES, 2018, 9 (01):
  • [46] Splicing: is there an alternative contribution to Parkinson's disease?
    La Cognata, Valentina
    D'Agata, Velia
    Cavalcanti, Francesca
    Cavallaro, Sebastiano
    NEUROGENETICS, 2015, 16 (04) : 245 - 263
  • [47] Tissue Usage Preference and Intrinsically Disordered Region Remodeling of Alternative Splicing Derived Proteoforms in the Heart
    Pandi, Boomathi
    Brenman, Stella
    Black, Alexander
    Ng, Dominic C. M.
    Lau, Edward
    Lam, Maggie P. Y.
    JOURNAL OF PROTEOME RESEARCH, 2024, 23 (08) : 3161 - 3173
  • [48] Proteogenomics Integrating Reveal a Complex Network, Alternative Splicing, Hub Genes Regulating Heart Maturation
    Yang, Huijun
    Liu, Weijing
    Song, Shen
    Bai, Lina
    Nie, Yu
    Bai, Yongping
    Zhang, Guogang
    GENES, 2022, 13 (02)
  • [49] CELF1 contributes to aberrant alternative splicing patterns in the type 1 diabetic heart
    Belanger, KarryAnne
    Nutter, Curtis A.
    Li, Jin
    Tasnim, Sadia
    Liu, Peiru
    Yu, Peng
    Kuyumcu-Martinez, Muge N.
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2018, 503 (04) : 3205 - 3211
  • [50] The role of alternative splicing and splicing factors in diabetes: Current status and future perspectives
    Singha, Didhiti
    Mondal, Meghna
    Ghosh, Dhruba
    Choudhury, Debopriya
    Chakravarti, Bandana
    Kar, Rajesh Kumar
    Malakar, Pushkar
    WILEY INTERDISCIPLINARY REVIEWS-RNA, 2024, 15 (01)
12345