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

Neurosci Lett. 2008 Feb 13;432(1):79-82. doi: 10.1016/j.neulet.2007.12.010. Epub 2007 Dec 15.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • DNA-Binding Proteins / genetics*
  • Energy Metabolism / physiology
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Variation*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Proteins / genetics*
  • Mutation, Missense
  • Parkinson Disease / epidemiology*
  • Parkinson Disease / genetics*
  • Polymorphism, Genetic
  • Risk Factors
  • Transcription Factors / genetics*


  • DNA-Binding Proteins
  • Mitochondrial Proteins
  • TFAM protein, human
  • Transcription Factors