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Perturbation of NCOA6 Leads to Dilated Cardiomyopathy

 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 
 CELL REPORTS, Vol.8(4) : 991-998, 2014 
Journal Title
Issue Date
Amino Acid Sequence ; Animals ; Base Sequence ; Cardiomyopathy, Dilated/genetics* ; Cardiomyopathy, Dilated/metabolism ; Cardiomyopathy, Dilated/pathology ; Cells, Cultured ; Gene Knockout Techniques ; Humans ; Mice, Transgenic ; Mitochondria, Heart/physiology ; Molecular Sequence Data ; Mutation, Missense ; Myocardium/metabolism ; Myocardium/pathology ; Myocytes, Cardiac/metabolism ; Nuclear Receptor Coactivators/genetics* ; Nuclear Receptor Coactivators/metabolism ; PPAR delta/metabolism ; Transcription, Genetic
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.
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1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers
Yonsei Authors
Kang, Seok Min(강석민) ORCID logo https://orcid.org/0000-0001-9856-9227
Oh, Jae Won(오재원) ORCID logo https://orcid.org/0000-0002-4585-1488
Lee, Beom Seob(이범섭)
Lee, Ji Hyun(이지현)
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