title: A straightforward guide to the sarcomeric basis of cardiomyopathies.
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.
authors.affiliation: Institute of Cardiovascular Science, University College London, London, UK Centro de Cardiologia da Universidade de Lisboa, University of Lisbon, Lisbon, Portugal Cardiology Department, Hospital Garcia de Orta, Almada, Portugal.
authors.forename: Luís R
authors.initials: LR
authors.lastname: Lopes
authors.affiliation: Institute of Cardiovascular Science, University College London, London, UK.
authors.forename: Perry M
authors.initials: PM
authors.lastname: Elliott
mesh_terms: D002118:Calcium / Q000502:physiology; D009202:Cardiomyopathies / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy; D002352:Carrier Proteins / Q000502:physiology; D002450:Cell Communication / Q000502:physiology; D015316:Genetic Therapy / Q000379:methods; D006706:Homeostasis / Q000502:physiology; D006801:Humans; D009154:Mutation / Q000235:genetics; D009200:Myocardial Contraction / Q000502:physiology; D058628:Myofibroblasts / Q000502:physiology; D018995:Myosin Heavy Chains / Q000502:physiology; D018994:Myosin Light Chains / Q000502:physiology; D012518:Sarcomeres / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D015398:Signal Transduction / Q000502:physiology; D000099163:Myosin Binding Protein C
chemical_list: D002118:Calcium; D002352:Carrier Proteins; D018995:Myosin Heavy Chains; D018994:Myosin Light Chains; D000099163:Myosin Binding Protein C
keywords: GENETICS; MYOCARDIAL DISEASE