The alternative heart: impact of alternative splicing in heart disease

Journal of Cardiovascular Translational Research
Enrique Lara-PezziPablo García-Pavía

Abstract

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.

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Related Concepts

Establishment and Maintenance of Localization
Myocardial Contraction
Nested Transcripts
Sarcomeres
Exons
Myopathy
Paracrine Protein Factors
Cardiomyopathies
Ion Channel
Nuclear mRNA Cis Splicing, via Spliceosome

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