The giant titin: how to evaluate its role in cardiomyopathies

Research output: Contribution to journalArticle

Authors

Colleges, School and Institutes

External organisations

  • Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence, University of Oxford, Oxford, OX3 9DU, UK.
  • Swansea University Medical School, Institute of Life Science, Swansea University, Swansea, United Kingdom.

Abstract

Titin, the largest protein known, has attracted a lot of interest in the cardiovascular field in recent years, since the discovery that truncating variants in titin are commonly found in patients with dilated cardiomyopathy. This review will discuss the contribution of variants in titin to inherited cardiac conditions (cardiomyopathies) and how model systems, such as animals and cellular systems, can help to provide insights into underlying disease mechanisms. It will also give an outlook onto exciting technological developments, such as in the field of CRISPR, which may facilitate future research on titin variants and their contributions to cardiomyopathies.

Details

Original languageEnglish
JournalJournal of Muscle Research and Cell Motility
Publication statusPublished - 30 May 2019

Keywords

  • Animal models, CRISPR/Cas9, Cardiomyopathy, Genome-engineering, Induced pluripotent stem cell derived cardiomyocytes, Titin

ASJC Scopus subject areas