期刊
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
卷 52, 期 15, 页码 1261-1262出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jacc.2008.07.021
关键词
laminopathy; dilated cardiomyopathy; sudden death; genetics
资金
- NCRR NIH HHS [M01 RR000051, M01 RR000051-466401] Funding Source: Medline
- NHLBI NIH HHS [R01 HL069071-03, R01 HL069071, R01 HL069071-02, R01 HL147064, R01 HL069071-01, K23 HL067915, R01 HL069071-04] Funding Source: Medline
Lamins are type V intermediate filament proteins that, thanks to their tridimensional structure, are able to polymerize, forming an organized meshwork. The lamin polymers lie between the inner nuclear membrane and the chromatin and have a complex role in maintaining nuclear shape and structure, transcriptional regulation, nuclear pore positioning and function, and heterochromatin organization (1). The lamin A/C gene (LMNA) produces two principal isoforms by alternative splicing, lamin A and C, which are expressed in a variety of terminally differentiated tissues; therefore, LMNA mutations can cause multiple seemingly disparate diseases including dilated cardiomyopathies (DCM) with conduction disease (CMD1A), the premature aging syndrome Hutchinson's progeria, skeletal myopathies (Emery-Dreifuss and limb-girdle muscular dystrophies), Charcot-Marie-Tooth type 2B1, familial partial lipodystrophy, restrictive dermopathy, and mandibuloacral dysplasia, along with various overlapping phenotypes and rare variants (1,2).
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