Genetic Variations Leading to Familial Dilated Cardiomyopathy
- Authors
- Cho, Kae Won; Lee, Jongsung; Kim, Youngjo
- Issue Date
- 31-Oct-2016
- Publisher
- 한국분자세포생물학회
- Keywords
- dilated cardiomyopathy; missense mutation; nuclear envelope; sarcomere protein; structural protein
- Citation
- Molecules and Cells, v.39, no.10, pp 722 - 727
- Pages
- 6
- Journal Title
- Molecules and Cells
- Volume
- 39
- Number
- 10
- Start Page
- 722
- End Page
- 727
- URI
- https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/8669
- DOI
- 10.14348/molcells.2016.0061
- ISSN
- 1016-8478
0219-1032
- Abstract
- Cardiomyopathy is a major cause of death worldwide. Based on pathohistological abnormalities and clinical manifestation, cardiomyopathies are categorized into several groups: hypertrophic, dilated, restricted, arrhythmogenic right ventricular, and unclassified. Dilated cardiomyopathy, which is characterized by dilation of the left ventricle and systolic dysfunction, is the most severe and prevalent form of cardiomyopathy and usually requires heart transplantation. Its etiology remains unclear. Recent genetic studies of single gene mutations have provided significant insights into the complex processes of cardiac dysfunction. To date, over 40 genes have been demonstrated to contribute to dilated cardiomyopathy. With advances in genetic screening techniques, novel genes associated with this disease are continuously being identified. The respective gene products can be classified into several functional groups such as sarcomere proteins, structural proteins, ion channels, and nuclear envelope proteins. Nuclear envelope proteins are emerging as potential molecular targets in dilated cardiomyopathy. Because they are not directly associated with contractile force generation and transmission, the molecular pathways through which these proteins cause cardiac muscle disorder remain unclear. However, nuclear envelope proteins are involved in many essential cellular processes. Therefore, integrating apparently distinct cellular processes is of great interest in elucidating the etiology of dilated cardiomyopathy. In this mini review, we summarize the genetic factors associated with dilated cardiomyopathy and discuss their cellular functions.
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Collections - Graduate School > Department of Integrated Biomedical Science > 1. Journal Articles
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