title: Mitochondrial transcription factor A (TFAM) gene variation in Parkinson's disease.
abstract: Mitochondrial function is necessary to supply the energy required for cell metabolism. Mutations/polymorphisms in mitochondrial DNA (mtDNA) have been implicated in Parkinson's disease (PD). The mitochondrial transcription factor A (TFAM) controls the transcription of mtDNA and regulates the mtDNA-copy number, thus being important for maintaining ATP production. TFAM dysfunction may also be involved in PD, and TFAM gene mutations/polymorphisms could contribute to the risk of developing PD. We searched for gene variants in the seven TFAM-exons in a total of 250 PD-patients. We found five common polymorphisms, and only one was a missense change (S12T in exon 1). Genotype and allele frequencies did not differ between patients and healthy controls (n=225) for the five polymorphisms. Our work suggests that TFAM-variants did not contribute to the risk of developing PD.
authors.affiliation: Genética Molecular, Hospital Central de Asturias-Maternidad, 33006 Oviedo, Spain.
authors.forename: Victoria
authors.initials: V
authors.lastname: Alvarez
authors.forename: Ana I
authors.initials: AI
authors.lastname: Corao
authors.forename: Elena
authors.initials: E
authors.lastname: Sánchez-Ferrero
authors.forename: Lorena
authors.initials: L
authors.lastname: De Mena
authors.forename: Cristina
authors.initials: C
authors.lastname: Alonso-Montes
authors.forename: Cecilia
authors.initials: C
authors.lastname: Huerta
authors.forename: Marta
authors.initials: M
authors.lastname: Blázquez
authors.forename: René
authors.initials: R
authors.lastname: Ribacoba
authors.forename: Luis M
authors.initials: LM
authors.lastname: Guisasola
authors.forename: Carlos
authors.initials: C
authors.lastname: Salvador
authors.forename: Mónica
authors.initials: M
authors.lastname: García-Castro
authors.forename: Eliecer
authors.initials: E
authors.lastname: Coto
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004268:DNA-Binding Proteins / Q000235:genetics*; D004734:Energy Metabolism / Q000502:physiology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D020125:Mutation, Missense; D010300:Parkinson Disease / Q000453:epidemiology* / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D024101:Mitochondrial Proteins; C499631:TFAM protein, human; D014157:Transcription Factors