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 hapl
ogroups and the A4336G mutation were not associated with an increased risk
of AD. mtDNA haplogroup Il was overrepresented in the DLB patients when com
pared with control subjects. Additional studies are needed to clarify the s
ignificance of the association.