| Literature DB >> 19952892 |
Alice Zemljic-Harpf1, Ana Maria Manso, Robert S Ross.
Abstract
Cardiomyopathy is a heart muscle disease caused by decreased contractility of the ventricles leading to heart failure and premature death. Multiple conditions like ischemic heart disease (atherosclerosis), hypertension, diabetes, viral infection, alcohol abuse, obesity and genetic mutations can lead to cardiomyopathy. Single gene mutations in sarcomeric proteins, Z-disk-associated proteins, membrane/associated proteins, intermediate filaments, calcium cycle proteins as well as in modifier genes have been linked to cardiomyopathy. Clinical practice guidelines have been formulated by the American Heart Association and the Heart Failure Association of America on how to genetically evaluate patients with cardiomyopathy. To illustrate the concept that alterations in genes cause cardiovascular disease, this review will focus on two membrane-associated proteins, vinculin and talin. We will discuss the general function of vinculin/metavinulin as well as talin1 and talin2, with emphasis on what is understood about their role in the cardiac myocyte and in whole heart.Entities:
Mesh:
Substances:
Year: 2009 PMID: 19952892 PMCID: PMC2810504 DOI: 10.2310/JIM.0b013e3181c5e074
Source DB: PubMed Journal: J Investig Med ISSN: 1081-5589 Impact factor: 2.895