{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:37:07Z","timestamp":1753871827313,"version":"3.41.2"},"reference-count":27,"publisher":"Portland Press Ltd.","issue":"1","license":[{"start":{"date-parts":[[2019,12,23]],"date-time":"2019-12-23T00:00:00Z","timestamp":1577059200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,1,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>A Chinese family with matrilineally inherited obesity was assessed and its clinical, genetic, and molecular profiling was conducted. Obesity was observed in matrilineal relatives (3 out of 7) of a single generation (of 3 alive generations) in this family. On pedigree analysis and sequencing of their mitochondrial DNA (mtDNA), a novel homoplasmic mutation of the mitochondrial tRNACys gene (5802A&amp;gt;G) was identified in these individuals. This mutation correlated with a destabilized conserved base pair in this tRNA anticodon stem. Position 30 is known to be crucial for carrying out effective codon recognition and stability of tRNA. In accordance with the importance of this conserved site, we observed that the predicted structure of tRNACys with the mutation was noticeably remodeled in a molecular dynamics simulation when compared with the isoform of the wild-type. All other 46 mutations observed in the individual\u2019s mtDNA were known variants belonging to haplogroup D4. Thus, this is the first report that provides evidence of the association between a mutation in tRNA and an enhanced risk of maternally transmissible obesity, offering more insights into obesity and its underlying nature.<\/jats:p>","DOI":"10.1042\/bsr20192153","type":"journal-article","created":{"date-parts":[[2019,12,23]],"date-time":"2019-12-23T11:23:36Z","timestamp":1577100216000},"update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Obesity associated with a novel mitochondrial tRNACys 5802A&amp;gt;G mutation in a Chinese family"],"prefix":"10.1042","volume":"40","author":[{"given":"Jinling","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Endocrinology, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center For Child Health, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ningning","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center For Child Health, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoting","family":"Mao","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center For Child Health, Hangzhou, Zhejiang 310058, China"},{"name":"Institute of Genetics, Zhejiang University, Hangzhou, Zhejiang 310058, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feilong","family":"Meng","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center For Child Health, Hangzhou, Zhejiang 310058, China"},{"name":"Institute of Genetics, Zhejiang University, Hangzhou, Zhejiang 310058, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ke","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center For Child Health, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guanping","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center For Child Health, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3924-7006","authenticated-orcid":false,"given":"Yanchun","family":"Ji","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Genomics, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center For Child Health, Hangzhou, Zhejiang 310058, China"},{"name":"Institute of Genetics, Zhejiang University, Hangzhou, Zhejiang 310058, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JunFen","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center For Child Health, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","published-online":{"date-parts":[[2020,1,6]]},"reference":[{"key":"2021111619583436500_B1","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1186\/1741-7015-9-71","article-title":"FTO gene polymorphisms and obesity risk: a meta-analysis","volume":"9","author":"Peng","year":"2011","journal-title":"BMC Med."},{"key":"2021111619583436500_B2","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1210\/jc.2017-00561","article-title":"Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline","volume":"102","author":"Styne","year":"2017","journal-title":"J. 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