Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies

Neurology. 2000 Jul 25;55(2):302-4. doi: 10.1212/wnl.55.2.302.


The authors analyzed the relationship between nuclear genetic risk factors (apolipoprotein E genotype) and mitochondrial DNA (mtDNA) sequence variants in pathologically proved cases of AD (n = 185), dementia with Lewy bodies (DLB; n = 84), and control subjects (n = 179). Specific European mtDNA haplogroups and the A4336G mutation were not associated with an increased risk of AD. mtDNA haplogroup H was overrepresented in the DLB patients when compared with control subjects. Additional studies are needed to clarify the significance of the association.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Apolipoproteins E / genetics
  • Brain / pathology
  • DNA, Mitochondrial / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Haplotypes / genetics*
  • Humans
  • Lewy Body Disease / genetics*
  • Lewy Body Disease / pathology
  • Risk


  • Apolipoproteins E
  • DNA, Mitochondrial