title: Expression of the mitochondrial ATPase6 gene and Tfam in Down syndrome.
abstract: We investigated the expression of the mitochondrial ATPase6 gene whose product is active in oxidative phosphorylation (OXPHOS), and compared it to the expression of Tfam, an important regulator of the transcription and replication of mtDNA. Our aim was to examine a possible relation between mitochondrial gene expression and Down syndrome. The expression of ATPase6 and Tfam was analyzed by RT-PCR amplification of the mRNA in cultured amniocytes from Down syndrome and normal fetuses. The band intensities obtained were normalized against those of HPRT. The Down syndrome fetuses were found to have lower ATPase6 and Tfam expression than the normal fetuses. This finding suggests that mitochondrial dysfunction resulting from decreased ATPase6 and Tfam expression during meiotic oocyte maturation of oocytes might affect ATP generation and cause the nondisjunctional error. Hence this study suggests that mitochondrial dysfunction may be associated with the developmental mechanism of Down syndrome.
authors.affiliation: Department of Obstetrics and Gynecology, College of Medicine, Seoul National University, Seoul 110-744, Korea.
authors.forename: Sook Hwan
authors.initials: SH
authors.lastname: Lee
authors.forename: Suman
authors.initials: S
authors.lastname: Lee
authors.forename: Hye Sun
authors.initials: HS
authors.lastname: Jun
authors.forename: Hye Jin
authors.initials: HJ
authors.lastname: Jeong
authors.forename: Won Tae
authors.initials: WT
authors.lastname: Cha
authors.forename: Yong Sun
authors.initials: YS
authors.lastname: Cho
authors.forename: Jung Hwan
authors.initials: JH
authors.lastname: Kim
authors.forename: Seung Yup
authors.initials: SY
authors.lastname: Ku
authors.forename: Kwang Yul
authors.initials: KY
authors.lastname: Cha
mesh_terms: D000251:Adenosine Triphosphatases / Q000096:biosynthesis / Q000235:genetics / Q000378:metabolism*; D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology / Q000378:metabolism; D004268:DNA-Binding Proteins; D004314:Down Syndrome / Q000378:metabolism*; D005260:Female; D005333:Fetus / Q000378:metabolism; D006801:Humans; D008928:Mitochondria / Q000378:metabolism*; D024101:Mitochondrial Proteins; D025261:Mitochondrial Proton-Translocating ATPases; D009687:Nuclear Proteins / Q000378:metabolism*; D011247:Pregnancy; D014157:Transcription Factors / Q000378:metabolism*
chemical_list: D004268:DNA-Binding Proteins; C501005:MT-ATP6 protein, human; D024101:Mitochondrial Proteins; D009687:Nuclear Proteins; C499631:TFAM protein, human; D014157:Transcription Factors; C422562:mitochondrial transcription factor A; D000251:Adenosine Triphosphatases; D025261:Mitochondrial Proton-Translocating ATPases