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Basic science review series
A straightforward guide to the sarcomeric basis of cardiomyopathies
  1. Luís R Lopes1,2,3,
  2. Perry M Elliott1
  1. 1Institute of Cardiovascular Science, University College London, London, UK
  2. 2Centro de Cardiologia da Universidade de Lisboa, University of Lisbon, Lisbon, Portugal
  3. 3Cardiology Department, Hospital Garcia de Orta, Almada, Portugal
  1. Correspondence to Professor Perry M Elliott, The Heart Hospital, 16-18 Westmoreland Street, London W1G 8PH, UK; perry.elliott{at}ucl.ac.uk

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.

  • GENETICS
  • MYOCARDIAL DISEASE

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