title: Point mutation in mitochondrial tRNA gene is associated with polycystic ovary syndrome and insulin resistance.
abstract: Polycystic ovarian syndrome (PCOS) is characterized by chronic anovulation, hyperandrogenism and polycystic ovaries. To date, the molecular mechanisms underlying PCOS have remained to be fully elucidated. As recent studies have revealed a positive association between mitochondrial dysfunction and PCOS, current investigations focus on mutations in the mitochondrial genome of patients with POCS. The present study reported a Chinese patient with PCOS. Sequence analysis of the mitochondrial genome showed the presence of homoplasmic ND5 T12338C and tRNASer (UCN) C7492T mutations as well as a set of polymorphisms belonging to the human mitochondrial haplogroup F2. The T12338C mutation is known to decrease the ND5 mRNA levels and to inhibit the processing of RNA precursors. The C7492T mutation, which occurred at the highly conserved nucleotide in the anticodon stem of the tRNASer (UCN) gene, is important for the tRNA steady‑state level as well as the aminoacylation ability. Therefore, the combination of the ND5 T12338C and tRNASer (UCN) C7492T mutations may lead to mitochondrial dysfunction, and is likely to be involved in the pathogenesis of PCOS. The present study provided novel insight into the molecular mechanisms of PCOS.
authors.affiliation: Central Laboratory, Hangzhou First People's Hospital Affiliated to Nanjing Medical University, Hangzhou, Zhejiang 310006, P.R. China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Ding
authors.affiliation: Central Laboratory, Hangzhou First People's Hospital Affiliated to Nanjing Medical University, Hangzhou, Zhejiang 310006, P.R. China.
authors.forename: Guangchao
authors.initials: G
authors.lastname: Zhuo
authors.affiliation: Central Laboratory, Hangzhou First People's Hospital Affiliated to Nanjing Medical University, Hangzhou, Zhejiang 310006, P.R. China.
authors.forename: Caijuan
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Central Laboratory, Hangzhou First People's Hospital Affiliated to Nanjing Medical University, Hangzhou, Zhejiang 310006, P.R. China.
authors.forename: Jianhang
authors.initials: J
authors.lastname: Leng
mesh_terms: D000328:Adult; D000818:Animals; D001483:Base Sequence; D003062:Codon; D042967:Electron Transport Complex I / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D007333:Insulin Resistance; D008928:Mitochondria / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics / Q000378:metabolism; D017354:Point Mutation; D011085:Polycystic Ovary Syndrome / Q000175:diagnosis* / Q000235:genetics; D012322:RNA Precursors / Q000378:metabolism; D012333:RNA, Messenger / Q000378:metabolism; D012343:RNA, Transfer / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: D003062:Codon; D024101:Mitochondrial Proteins; D012322:RNA Precursors; D012333:RNA, Messenger; D012343:RNA, Transfer; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I