Lack of association between mtDNA haplogroups and Alzheimer's disease in Tuscany

Neurol Sci. 2007 Jun;28(3):142-7. doi: 10.1007/s10072-007-0807-z. Epub 2007 Jun 30.


Mitochondrial DNA (mtDNA) haplogroup-specific polymorphisms were previously related to several neurodegenerative diseases, including Alzheimer's disease (AD). However, the precise role of mtDNA haplogroups in the neurodegenerative cascade leading to AD is still unclear. In this work we have genotyped predefined European mtDNA haplogroups in 209 patients with AD and 191 matched controls. In order to minimise the risk of "genetic contamination", which could lead to false associations between gene markers and disease, we were careful to enrol in the study only patients and controls of clear Tuscan origin (with at least three generations of Tuscanborn relatives). The frequency of the haplogroups did not differ between the two groups, and no correlation with gender, ApoE genotype, age of onset or disease status was observed. Further studies will be required to define the contribution of mtDNA haplogroups, if any, to the pathogenesis of AD. A correct population selection, in order to minimise the risk of genetic contamination, is essential in these studies.

MeSH terms

  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / epidemiology
  • Alzheimer Disease / genetics*
  • Apolipoproteins E / genetics
  • DNA, Mitochondrial / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Haplotypes
  • Humans
  • Italy / epidemiology
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Sex Factors


  • Apolipoproteins E
  • DNA, Mitochondrial