{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:36:21Z","timestamp":1747182981305,"version":"3.40.5"},"reference-count":43,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Uterine fibroids (UFs) are the most common benign neoplasms, but their pathogenesis is not completely understood. Thus far, alterations in the mitochondrial DNA (mtDNA) content and the mtDNA 4977\u2010bp deletion level in UFs, as well as the corresponding nontumorous tissue, have remained elusive. To test whether large mtDNA deletions and mtDNA content are involved in the pathogenesis of UFs, a total of 309 UF tissues and 28 paired adjacent myometrium from 270 UF patients were enrolled for the analysis of large mtDNA deletions and mtDNA content through the use of nested PCR and qPCR techniques, respectively. In our samples, a 4977\u2010bp deletion was identified: 36 out of 309 UF tissues (11.56%) and 15 out of 28 (53.57%) paired adjacent myometrium were detected to harbor the 4977\u2010bp deletion. In addition, a novel 4838\u2010bp mtDNA deletion was identified in three UF tissues, and other different sizes of deleted fragments (4910, 4926, 5135\u2010bp) were also found in UFs for the first time. Furthermore, older age was significantly associated with an mtDNA large deletion in the paired adjacent myometrium. We also found that increased mtDNA content and higher expression of ND1 occurred in solitary fibroids compared to adjacent myometrium. In conclusion, we identified a lower frequency of mtDNA large deletions and some novel large deletion in UFs for the first time. Furthermore, there was a general increase of mtDNA copy number during solitary UF development. Although the definite mechanism by which mtDNA was altered is supposed to be further confirmed, it will be helpful for further studies on the pathological mechanism of UFs.<\/jats:p>","DOI":"10.1111\/ahg.12303","type":"journal-article","created":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T11:52:53Z","timestamp":1551441173000},"page":"220-230","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The mitochondrial DNA 4977\u2010bp deletion and copy number alteration in Han Chinese samples with uterine fibroids"],"prefix":"10.1111","volume":"83","author":[{"given":"Yong","family":"Luo","sequence":"first","affiliation":[{"name":"Key Laboratory of Women's Reproductive Health of Jiangxi Province Jiangxi Provincial Maternal and Child Health Hospital  Nanchang Jiangxi China"},{"name":"Central Laboratory Jiangxi Provincial Maternal and Child Health Hospital  Nanchang Jiangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Zou","sequence":"additional","affiliation":[{"name":"Key Laboratory of Women's Reproductive Health of Jiangxi Province Jiangxi Provincial Maternal and Child Health Hospital  Nanchang Jiangxi China"},{"name":"Central Laboratory Jiangxi Provincial Maternal and Child Health Hospital  Nanchang Jiangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Gynaecology Jiangxi Provincial Maternal and Child Health Hospital  Nanchang Jiangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zi\u2010Yu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Women's Reproductive Health of Jiangxi Province Jiangxi Provincial Maternal and Child Health Hospital  Nanchang Jiangxi China"},{"name":"Central Laboratory Jiangxi Provincial Maternal and Child Health Hospital  Nanchang Jiangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fa\u2010Ying","family":"Liu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Women's Reproductive Health of Jiangxi Province Jiangxi Provincial Maternal and Child Health Hospital  Nanchang Jiangxi China"},{"name":"Central Laboratory Jiangxi Provincial Maternal and Child Health Hospital  Nanchang Jiangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li\u2010Ping","family":"Li","sequence":"additional","affiliation":[{"name":"Key Laboratory of Women's Reproductive Health of Jiangxi Province Jiangxi Provincial Maternal and Child Health Hospital  Nanchang Jiangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0107-6432","authenticated-orcid":false,"given":"Ou\u2010Ping","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Gynaecology Jiangxi Provincial Maternal and Child Health Hospital  Nanchang Jiangxi China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,3]]},"reference":[{"issue":"4","key":"e_1_2_7_2_1","first-page":"343","article-title":"Vitrification of mouse MII oocyte decreases the mitochondrial DNA copy number, TFAM gene expression and mitochondrial enzyme activity","volume":"18","author":"Amoushahi M.","year":"2017","journal-title":"Journal of Reproduction & Infertility"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1590\/S1415-47572009005000102"},{"issue":"6","key":"e_1_2_7_4_1","first-page":"1379","article-title":"X\u2010chromosomal inactivation analysis of uterine leiomyomas reveals a common clonal origin of different tumor nodules in some multiple leiomyomas","volume":"31","author":"Cai Y. 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