title: Mutational screening of the mitochondrial transcription factors B1 and B2 (TFB1M and TFB2M) in Parkinson's disease.
abstract: Mitochondrial dysfunction has been implicated in Parkinson's disease (PD). The nuclear encoded transcription factors A, B1 and B2 are essential for mitochondrial DNA replication. Sequence variants at the genes encoding TFAM, TFB1M and TFB2M could contribute to the risk of developing PD. Here, we searched for TFB1M and TFB2M nucleotide variants in a cohort of PD-patients (n=300) and healthy controls (n=200) from Spain. Single strand conformation analysis and direct sequencing were used to determine the variation at all the coding exons of the two genes. In addition to previously reported polymorphisms, we found several rare variants in patients and controls. Allele frequencies for all the nucleotide changes did not differ between patients and controls. Our work suggests that DNA variants in TFB1M and TFB2M did not contribute to the risk for PD in our population.
authors.affiliation: Genética Molecular, Hospital Central de Asturias, 33006 Oviedo, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Sánchez-Ferrero
authors.forename: Eliecer
authors.initials: E
authors.lastname: Coto
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: Victoria
authors.initials: V
authors.lastname: Alvarez
mesh_terms: D000368:Aged; D015331:Cohort Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008780:Methyltransferases / Q000235:genetics*; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D024101:Mitochondrial Proteins; C499632:TFB1M protein, human; D014157:Transcription Factors; D008780:Methyltransferases; C462443:TFB2M protein, human