Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies.
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.
Chinnery
P F
PF
Department of Neurology, The University of Newcastle upon Tyne, UK.
Taylor
G A
GA
Howell
N
N
Andrews
R M
RM
Morris
C M
CM
Taylor
R W
RW
McKeith
I G
IG
Perry
R H
RH
Edwardson
J A
JA
Turnbull
D M
DM
D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology; D001057:Apolipoproteins E / Q000235:genetics; D001921:Brain / Q000473:pathology; D004272:DNA, Mitochondrial / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D020961:Lewy Body Disease / Q000235:genetics* / Q000473:pathology; D012306:Risk
D001057:Apolipoproteins E; D004272:DNA, Mitochondrial