• Neuroscience letters · Feb 2008

    Mitochondrial transcription factor A (TFAM) gene variation in Parkinson's disease.

    • Victoria Alvarez, Ana I Corao, Elena Sánchez-Ferrero, Lorena De Mena, Cristina Alonso-Montes, Cecilia Huerta, Marta Blázquez, René Ribacoba, Luis M Guisasola, Carlos Salvador, Mónica García-Castro, and Eliecer Coto.
    • Genética Molecular, Hospital Central de Asturias-Maternidad, 33006 Oviedo, Spain.
    • Neurosci. Lett. 2008 Feb 13;432(1):79-82.

    AbstractMitochondrial 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.

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