Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease

Neurosci Lett. 2010 Dec 17;486(3):228-30. doi: 10.1016/j.neulet.2010.09.059. Epub 2010 Sep 29.


Mitochondrial dysfunction has been proposed to play a role in the pathogenesis of Parkinson's disease (PD). Supportive of this hypothesis, several genetic variants that regulate mitochondrial function and homeostasis have been described to alter PD susceptibility. A recent report demonstrated association of a single nucleotide polymorphism in the mitochondrial translation initiation factor 3 (MTIF3) gene with PD risk. The protein encoded by this nuclear gene is essential for initiation complex formation on the mitochondrial 55S ribosome and regulates translation of proteins within the mitochondria. Changes in the function or expression of the MTIF3 protein may result in altered mitochondrial function, ATP production or formation of reactive oxygen species thereby affecting susceptibility to PD. We examined the association of rs7669 with sporadic PD in three Caucasian case control series (n=2434). A significant association was observed in the largest series (Norwegian; n=1650) when comparing CC vs. CT/TT genotypes, with the Irish and US series having a similar but non-significant trend. The combined series also revealed an association with risk of PD (P=0.01), supporting the possible involvement of this gene in PD etiology.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphate / biosynthesis
  • Adenosine Triphosphate / genetics
  • Adult
  • Aged
  • Aged, 80 and over
  • Case-Control Studies
  • Eukaryotic Initiation Factors / biosynthesis
  • Eukaryotic Initiation Factors / genetics*
  • European Continental Ancestry Group / ethnology
  • European Continental Ancestry Group / genetics
  • Female
  • Genetic Association Studies / methods
  • Genetic Association Studies / trends
  • Genetic Predisposition to Disease
  • Humans
  • Ireland / ethnology
  • Male
  • Middle Aged
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / metabolism
  • Mitochondrial Proteins / biosynthesis
  • Mitochondrial Proteins / genetics*
  • Norway / ethnology
  • Parkinson Disease / diagnosis
  • Parkinson Disease / genetics*
  • Parkinson Disease / metabolism
  • Polymorphism, Single Nucleotide / genetics*
  • United States / ethnology


  • Eukaryotic Initiation Factors
  • MTIF3 protein, human
  • Mitochondrial Proteins
  • Adenosine Triphosphate