No mitochondrial haplotype was found to increase risk for Alzheimer's disease.
BACKGROUND
Seventy Alzheimer's disease (AD) patients and 80 age- and sex-matched controls were analyzed for mitochondrial mutations T4336C and A3397G, reported to be associated with AD, and for mutations T4216C/G13708A characteristic for a normal human haplotype associated with increased frequency of occurrence of some hereditary diseases. The distribution of apolipoprotein E (apoE) alleles was also analyzed.


METHODS
Mitochondrial DNA was amplified by polymerase chain reaction, and the presence of mutations was detected by digestion with approximately chosen restriction endonucleases (restriction fragment length polymorphism).


RESULTS
One patient and 2 controls were found to belong to the T4336C/T1630C haplotype. No A3397G mutant was detected. The T4216C/G13708A haplotype occurred at 5/70 and 5/80 frequency in the two groups. Prevalence of the apoE4 allele was significantly higher in AD patients (25%) than in the control group (8.1%).


CONCLUSIONS
The T4336C/T16304C mutations were not found to associated with AD, and no predisposing mitochondrial haplotypes were found.
Zsurka
G
G
Institute of Biochemistry, Biological Research Center of the Hungarian Academy of Sciences, Szeged, Hungary.
Kálmán
J
J
Császár
A
A
Raskó
I
I
Janka
Z
Z
Venetianer
P
P
D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000209:etiology / Q000235:genetics*; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D009154:Mutation; D012307:Risk Factors