Current insights into LMNA cardiomyopathies: Existing models and missing LINCs

被引:56
作者
Brayson, Daniel [1 ]
Shanahan, Catherine M. [1 ]
机构
[1] Kings Coll London, James Black Ctr, 125 Coldharbour Lane, London SE5 9NU, England
关键词
cardiomyocyte; cardiomyopathy; LINC complex; LMNA; mechanotransduction; nuclear lamina; prelamin A; RIGHT-VENTRICULAR CARDIOMYOPATHY; LAMIN A/C GENE; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; SUDDEN CARDIAC DEATH; DILATED CARDIOMYOPATHY; CLINICAL CARDIOLOGY; MUSCULAR-DYSTROPHY; MUTATIONS CAUSE; DEFECTIVE MATURATION; CALCIUM SENSITIVITY;
D O I
10.1080/19491034.2016.1260798
中图分类号
Q2 [细胞生物学];
学科分类号
071013 [干细胞生物学];
摘要
The nuclear lamina is a critical structural domain for the maintenance of genomic stability and whole-cell mechanics. Mutations in the LMNA gene, which encodes nuclear A-type lamins lead to the disruption of these key cellular functions, resulting in a number of devastating diseases known as laminopathies. Cardiomyopathy is a common laminopathy and is highly penetrant with poor prognosis. To date, cell mechanical instability and dysregulation of gene expression have been proposed as the main mechanisms driving cardiac dysfunction, and indeed discoveries in these areas have provided some promising leads in terms of therapeutics. However, important questions remain unanswered regarding the role of lamin A dysfunction in the heart, including a potential role for the toxicity of lamin A precursors in LMNA cardiomyopathy, which has yet to be rigorously investigated.
引用
收藏
页码:17 / 33
页数:17
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