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

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)991-998
Number of pages8
JournalCell Reports
Issue number4
StatePublished - Aug 21 2014
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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