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The mitochondrial DNA 4977-bp deletion and copy number alteration in Han Chinese samples with uterine fibroids.
Luo, Yong; Zou, Yang; Wu, Juan; Zhang, Zi-Yu; Liu, Fa-Ying; Li, Li-Ping; Huang, Ou-Ping.
Afiliación
  • Luo Y; Key Laboratory of Women's Reproductive Health of Jiangxi Province, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi, China.
  • Zou Y; Central Laboratory, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi, China.
  • Wu J; Key Laboratory of Women's Reproductive Health of Jiangxi Province, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi, China.
  • Zhang ZY; Central Laboratory, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi, China.
  • Liu FY; Department of Gynaecology, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi, China.
  • Li LP; Key Laboratory of Women's Reproductive Health of Jiangxi Province, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi, China.
  • Huang OP; Central Laboratory, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, Jiangxi, China.
Ann Hum Genet ; 83(4): 220-230, 2019 07.
Article en En | MEDLINE | ID: mdl-30821350
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-bp 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-bp 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-bp deletion. In addition, a novel 4838-bp mtDNA deletion was identified in three UF tissues, and other different sizes of deleted fragments (4910, 4926, 5135-bp) 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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN Mitocondrial / Eliminación de Secuencia / Susceptibilidad a Enfermedades / Variaciones en el Número de Copia de ADN / Leiomioma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Middle aged País/Región como asunto: Asia Idioma: En Revista: Ann Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN Mitocondrial / Eliminación de Secuencia / Susceptibilidad a Enfermedades / Variaciones en el Número de Copia de ADN / Leiomioma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Middle aged País/Región como asunto: Asia Idioma: En Revista: Ann Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido