title: Mutations in the mitochondrial ATPase6 gene are frequent in human osteosarcoma.
abstract: To explore the polymorphisms and mutations of mitochondrial ATPase6 gene in Chinese patients with osteosarcoma and their possible association with carcinogenesis, direct DNA sequencing method was used to detect the variants of the mitochondrial ATPase6 gene in 39 patients with osteosarcoma. We found mutations of the mitochondrial ATPase6 gene in 24/39 (61.5%) of the tested osteosarcoma samples, and identified 27 variant sites in ATPase6 coding regions. We did not detect any new polymorphisms in osteosarcoma, nor was there any association between variants and the three histopathological subtypes. These data demonstrated that mtDNA mutations within the ATPase6 gene are a frequent event in Chinese patients with osteosarcoma.
authors.affiliation: Respiratory Department of Nanlou, Chinese People's Liberation Army General Hospital, 28# Fuxing Road, Haidian District, Beijing 100853, China.
authors.forename: Xue-Guang
authors.initials: XG
authors.lastname: Guo
authors.forename: Chang-Ting
authors.initials: CT
authors.lastname: Liu
authors.forename: Huanzi
authors.initials: H
authors.lastname: Dai
authors.forename: Qiao-Nan
authors.initials: QN
authors.lastname: Guo
mesh_terms: D001859:Bone Neoplasms / Q000201:enzymology / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D050259:Genes, Mitochondrial; D014644:Genetic Variation; D006801:Humans; D008928:Mitochondria / Q000201:enzymology / Q000235:genetics; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics*; D009154:Mutation; D012516:Osteosarcoma / Q000201:enzymology / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial; C501005:MT-ATP6 protein, human; D025261:Mitochondrial Proton-Translocating ATPases