{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["7(4)"],"submitter":["Cai K"],"pubmed_abstract":["Short-chain enoyl-CoA hydratase 1 (ECHS1) deficiency plays a role in cardiomyopathy. Whether ECHS1 deficiency causes or is only associated with cardiomyopathy remains unclear. By using <i>Echs1</i> heterogeneous knockout (<i>Echs1</i> <sup>+/-</sup>) mice, we found that ECHS1 deficiency caused cardiac dysfunction, as evidenced by diffuse myocardial fibrosis and upregulated fibrosis-related genes. Mechanistically, ECHS1 interacts with the p300 nuclear localization sequence, preventing its nuclear translocation in fibroblasts. ECHS1 deficiency promotes p300 nuclear translocation, leading to increased H3K9 acetylation, a known risk factor for cardiomyopathy. Nicotinamide mononucleotide-mediated acetylation targeting suppressed ECHS1 deficiency-induced cardiomyopathy phenotypes in <i>Echs1</i> <sup>+/-</sup> mice. Thus, enhancing p300-mediated H3K9ac is a potential interventional approach for preventing ECHS1 deficiency-induced cardiomyopathy."],"journal":["JACC. Basic to translational science"],"pagination":["348-362"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9079797"],"repository":["biostudies-literature"],"pubmed_title":["Nicotinamide Mononucleotide Alleviates Cardiomyopathy Phenotypes Caused by Short-Chain Enoyl-Coa Hydratase 1 Deficiency."],"pmcid":["PMC9079797"],"pubmed_authors":["Shen AN","Zhao JY","Wang F","Zang WD","Lu JQ","Cai K","Zhao SM","Gui YH"],"additional_accession":[]},"is_claimable":false,"name":"Nicotinamide Mononucleotide Alleviates Cardiomyopathy Phenotypes Caused by Short-Chain Enoyl-Coa Hydratase 1 Deficiency.","description":"Short-chain enoyl-CoA hydratase 1 (ECHS1) deficiency plays a role in cardiomyopathy. Whether ECHS1 deficiency causes or is only associated with cardiomyopathy remains unclear. By using <i>Echs1</i> heterogeneous knockout (<i>Echs1</i> <sup>+/-</sup>) mice, we found that ECHS1 deficiency caused cardiac dysfunction, as evidenced by diffuse myocardial fibrosis and upregulated fibrosis-related genes. Mechanistically, ECHS1 interacts with the p300 nuclear localization sequence, preventing its nuclear translocation in fibroblasts. ECHS1 deficiency promotes p300 nuclear translocation, leading to increased H3K9 acetylation, a known risk factor for cardiomyopathy. Nicotinamide mononucleotide-mediated acetylation targeting suppressed ECHS1 deficiency-induced cardiomyopathy phenotypes in <i>Echs1</i> <sup>+/-</sup> mice. Thus, enhancing p300-mediated H3K9ac is a potential interventional approach for preventing ECHS1 deficiency-induced cardiomyopathy.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2024-11-20T15:15:00.373Z","creation":"2024-11-20T15:15:00.373Z"},"accession":"S-EPMC9079797","cross_references":{"pubmed":["35540099"],"doi":["10.1016/j.jacbts.2021.12.007"]}}