When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies

Research output: Contribution to journalReview article

Authors

Colleges, School and Institutes

External organisations

  • University of Oxford

Abstract

Cardiomyopathies are a diverse group of cardiac disorders with distinct phenotypes, depending on the proteins and pathways affected. A substantial proportion of cardiomyopathies are inherited and those will be the focus of this review article. With the wide application of high-throughput sequencing in the practice of clinical genetics, the roles of novel genes in cardiomyopathies are recognised. Here, we focus on a subgroup of cardiomyopathy genes [TTN, FHL1, CSRP3, FLNC and PLN, coding for Titin, Four and a Half LIM domain 1, Muscle LIM Protein, Filamin C and Phospholamban, respectively], which, despite their diverse biological functions, all have important signalling functions in the heart, suggesting that disturbances in signalling networks can contribute to cardiomyopathies.

Details

Original languageEnglish
Pages (from-to)303-316
Number of pages14
JournalJournal of Muscle Research and Cell Motility
Volume38
Issue number3-4
Publication statusPublished - 8 Nov 2017

Keywords

  • Cardiomyopathies, Genetic pathogenic variant, Mutation, Variant of unknown significance, Signalling, Titin, Mouse models, Heart