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 T4216
C/G13708A characteristic for a normal human haplotype associated with
increased frequency of occurrence of some hereditary diseases. The dis
tribution of apolipoprotein E (apoE) alleles was also analyzed. Method
s: Mitochondrial DNA was amplified by polymerase chain reaction, and t
he presence of mutations was detected by digestion with appropriately
chosen restriction endonucleases (restriction fragment length polymorp
hism), Results: One patient and 2 controls were found to belong to the
T4336C/T16304C haplotype, No A3397G mutant was detected. The T4216C/G
13708A haplotype occurred at 5/70 and 5/80 frequency in the two groups
. Prevalence of the apoE4 allele was significantly higher in AD patien
ts (25%) than in the control group (8.1%), Conclusions: The T4336C/T16
304C mutations were not found to be associated with AD, and no predisp
osing mitochondrial haplotypes were found (C) 1998 Society of Biologic
al Psychiatry.