A straightforward guide to the sarcomeric basis of cardiomyopathies. Issue 24 (30th September 2014)

• Record Type: Journal Article
• Authors: Lopes, Luís R; Elliott, Perry M
• Is Part Of: Heart. Volume 100:Issue 24(2014)
• Page Start: 1916
• Page End: 1923
• Publication Date: 2014-09-30
• Subjects: GENETICS -- MYOCARDIAL DISEASE; Heart -- Diseases -- Treatment -- Periodicals; Cardiology -- Periodicals; 616.12
• DOI: 10.1136/heartjnl-2014-305645
• Languages: English
• ISSNs: 1355-6037

Abstract

Abstract : The sarcomere is the principal contractile unit of striated muscle. Mutations in genes encoding sarcomeric proteins are responsible for a range of diseases including hypertrophic, dilated and restrictive cardiomyopathies and ventricular non-compaction. The downstream molecular pathways leading to these heterogeneous phenotypes include changes in acto-myosin cross-bridge kinetics, altered mechanosensation, disturbed calcium sensitivity, de-regulated signalling pathways, inefficient energetics, myocardial ischaemia and fibrosis. The elucidation of the genetic causes of cardiomyopathy has helped in understanding the structure and function of the sarcomere and a more detailed knowledge of the sarcomere and its associated proteins has suggested additional gene candidates. The new hope is that these advances will stimulate the discovery of disease-modifying drugs.