{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T13:07:16Z","timestamp":1784293636692,"version":"3.55.0"},"reference-count":47,"publisher":"Wiley","issue":"19","license":[{"start":{"date-parts":[[2022,9,15]],"date-time":"2022-09-15T00:00:00Z","timestamp":1663200000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81770124"],"award-info":[{"award-number":["81770124"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81570234"],"award-info":[{"award-number":["81570234"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Emerin is an inner nuclear envelope protein encoded by the <jats:italic>EMD<\/jats:italic> gene, mutations in which cause Emery\u2013Dreifuss muscular dystrophy type 1 (EDMD1). Cardiac involvement has become a major threat to patients with EDMD1; however, the cardiovascular phenotype spectrums of emerinopathy and the mechanisms by which emerin regulates cardiac pathophysiology remain unclear. Here, we identified a novel nonsense mutation (c.C57G, p.Y19X) in the <jats:italic>EMD<\/jats:italic> gene in a Han Chinese family through high\u2010throughput sequencing. Two family members were found to have EDMD1 with muscle weakness and cardiac arrhythmia. Mechanistically, we first discovered that knockdown of emerin in HL\u20101 or H9C2 cardiomyocytes lead to impaired mitochondrial oxidative phosphorylation capacity with downregulation of electron transport chain complex I and IV and upregulation of complex III and V. Moreover, loss of emerin in HL\u20101 cells resulted in collapsed mitochondrial membrane potential, altered mitochondrial networks and downregulated multiple factors in RNA and protein level, such as PGC1\u03b1, DRP1, MFF, MFN2, which are involved in regulation of mitochondrial biogenesis, fission and fusion. Our findings suggest that targeting mitochondrial bioenergetics might be an effective strategy against cardiac disorders caused by <jats:italic>EMD<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1111\/jcmm.17532","type":"journal-article","created":{"date-parts":[[2022,9,15]],"date-time":"2022-09-15T08:53:25Z","timestamp":1663232005000},"page":"5054-5066","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A novel mutation in human <scp><i>EMD<\/i><\/scp> gene and mitochondrial dysfunction in emerin knockdown cardiomyocytes"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2832-2880","authenticated-orcid":false,"given":"Zunhui","family":"Du","sequence":"first","affiliation":[{"name":"Department of Cardiovascular Medicine, Ruijin Hospital Shanghai Jiao Tong University School of Medicine  Shanghai 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Cardiovascular Medicine, Ruijin Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinwei","family":"Quan","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Ruijin Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Ruijin Hospital Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Xie","sequence":"additional","affiliation":[{"name":"Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingjie","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Medicine, Ruijin Hospital 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