The alternative heart: impact of alternative splicing in heart disease

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


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.


Nov 30, 2013·Thrombosis·Andreas Eisenreich
Mar 25, 2014·Journal of Cardiovascular Translational Research·Emanuele BarbatoJennifer L Hall
Jan 1, 2015·International Journal of Molecular Sciences·Feng-Chi Chen
Dec 30, 2014·Journal of the Chinese Medical Association : JCMA·Yao-Ping LinChao-Hsiung Lin
Jun 4, 2015·Proceedings of the National Academy of Sciences of the United States of America·Junqiang YeTom Maniatis
Jan 5, 2016·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Rebecca MuirJoanna Poulton
Dec 15, 2015·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Raúl GuantesFrancisco J Iborra
Jun 2, 2015·Nature Chemical Biology·James PalacinoRajeev Sivasankaran
May 7, 2015·Methods : a Companion to Methods in Enzymology·Hongzhu CuiDmitry Korkin
Oct 21, 2016·Scientific Reports·Jimena GiudiceThomas A Cooper
Jan 18, 2017·Scientific Reports·Tara N RindlerStephanie M Ware
Nov 12, 2016·The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry·Enrique Lara-PezziMaría Victoria Gómez-Gaviro
Apr 14, 2018·Circulation·Maarten M G van den HoogenhofEsther E Creemers
Apr 27, 2019·American Journal of Physiology. Heart and Circulatory Physiology·Ali M TabishSakthivel Sadayappan
Dec 14, 2019·Bioinformatics·Carlos Martí-GómezFátima Sánchez-Cabo
Jul 13, 2017·Current Opinion in Pediatrics·Stephanie M Ware
Nov 8, 2015·Journal of Cardiovascular Translational Research·Ares Pasipoularides
Sep 11, 2020·American Journal of Medical Genetics. Part a·Sara H El-DessoukyMaha Saad Zaki
Dec 6, 2017·Frontiers in Physiology·Zoltán V VargaPéter Ferdinandy
Mar 15, 2018·Pflügers Archiv : European journal of physiology·Hyoung Kyu KimJin Han
Aug 5, 2018·Scientific Reports·Maarten M G van den HoogenhofEsther E Creemers
Jun 27, 2019·Journal of Cellular Physiology·Junhui XiaoZun-Ping Ke
Jun 20, 2015·Journal of Cardiovascular Translational Research·Kevin A FriedeDeepak Voora
Jan 13, 2018·Scientific Reports·Liang MaZhongming Zhao
Jul 28, 2018·Biophysical Reviews·A Beqqali
May 11, 2017·Nature Reviews. Molecular Cell Biology·Francisco E Baralle, Jimena Giudice
Oct 6, 2020·PLoS Computational Biology·Jose Manuel RodriguezMichael L Tress


Apr 20, 1995·The New England Journal of Medicine·H WatkinsJ G Seidman
Mar 15, 2002·American Journal of Physiology. Heart and Circulatory Physiology·Francesca J DavisMahesh P Gupta
Apr 5, 2002·Molecular Cell·Nicolas Charlet-BThomas A Cooper
Jul 24, 2002·Circulation·Isabelle DeschênesGordon F Tomaselli
Dec 13, 2003·Science·Rahul N KanadiaMaurice S Swanson
Feb 14, 2004·The EMBO Journal·Jian-Hua DingXiang-Dong Fu
Sep 15, 2004·Journal of the American College of Cardiology·Li ZhangIgor Splawski
Nov 6, 2004·Science·Aurélie GoyenvalleOlivier Danos
May 3, 2005·Proceedings of the National Academy of Sciences of the United States of America·Igor SplawskiMark T Keating
Jun 15, 2005·Trends in Cell Biology·Peter W GunningEdna C Hardeman
Jul 30, 2005·Cardiovascular Research·Ping LiaoTuck Wah Soong
Apr 29, 2006·Science·Paola Scaffidi, Tom Misteli
Jun 24, 2006·Circulation Research·Donna J ThueraufChristopher C Glembotski
Jul 5, 2006·Molecular Cell·Esther E CreemersEric N Olson
May 26, 2007·Circulation Research·Maria Paola SantiniNadia Rosenthal
Nov 21, 2007·The Journal of Biological Chemistry·Amy E House, Kristen W Lynch
Dec 18, 2007·Nature Genetics·Ramesh S YadavaMani S Mahadevan
Dec 19, 2007·The Journal of Cell Biology·Enrique Lara-PezziNadia Rosenthal

Related Concepts

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

Related Feeds


Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.


Arrhythmias are abnormalities in heart rhythms, which can be either too fast or too slow. They can result from abnormalities of the initiation of an impulse or impulse conduction or a combination of both. Here is the latest research on arrhythmias.

Atrial Fibrillation

Atrial fibrillation is a common arrhythmia that is associated with substantial morbidity and mortality, particularly due to stroke and thromboembolism. Here is the latest research.

Alternative splicing

Alternative splicing a regulated gene expression process that allows a single genetic sequence to code for multiple proteins. Here is that latest research.

Related Papers

Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte
W M FranzH A Katus
The Journal of Biological Chemistry
Brandon J Biesiadecki, Jian-Ping Jin
© 2020 Meta ULC. All rights reserved