Document Detail

Perturbation of NCOA6 Leads to Dilated Cardiomyopathy.
MedLine Citation:
PMID:  25131203     Owner:  NLM     Status:  Publisher    
Dilated cardiomyopathy (DCM) is a progressive heart disease characterized by left ventricular dilation and contractile dysfunction. Although many candidate genes have been identified with mouse models, few of them have been shown to be associated with DCM in humans. Germline depletion of Ncoa6, a nuclear hormone receptor coactivator, leads to embryonic lethality and heart defects. However, it is unclear whether Ncoa6 mutations cause heart diseases in adults. Here, we report that two independent mouse models of NCOA6 dysfunction develop severe DCM with impaired mitochondrial function and reduced activity of peroxisome proliferator-activated receptor δ (PPARδ), an NCOA6 target critical for normal heart function. Sequencing of NCOA6-coding regions revealed three independent nonsynonymous mutations present in 5 of 50 (10%) patients with idiopathic DCM (iDCM). These data suggest that malfunction of NCOA6 can cause DCM in humans.
Jae-Il Roh; Cheolho Cheong; Young Hoon Sung; Jeehyun Lee; Jaewon Oh; Beom Seob Lee; Jong-Eun Lee; Yong Song Gho; Duk-Kyung Kim; Chan Bae Park; Ji Hyun Lee; Jae Woon Lee; Seok-Min Kang; Han-Woong Lee
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-8-12
Journal Detail:
Title:  Cell reports     Volume:  -     ISSN:  2211-1247     ISO Abbreviation:  Cell Rep     Publication Date:  2014 Aug 
Date Detail:
Created Date:  2014-8-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101573691     Medline TA:  Cell Rep     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.
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