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.
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 ADpatients (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.
Authors: Perry G Ridge; Taylor J Maxwell; Christopher D Corcoran; Maria C Norton; Joann T Tschanz; Elizabeth O'Brien; Richard A Kerber; Richard M Cawthon; Ronald G Munger; John S K Kauwe Journal: PLoS One Date: 2012-09-17 Impact factor: 3.240
Authors: Annamaria Pezzotti; Peter Kraft; Susan E Hankinson; David J Hunter; Julie Buring; David G Cox Journal: PLoS One Date: 2009-04-24 Impact factor: 3.240
Authors: Perry G Ridge; Andre Koop; Taylor J Maxwell; Matthew H Bailey; Russell H Swerdlow; John S K Kauwe; Robyn A Honea Journal: PLoS One Date: 2013-09-11 Impact factor: 3.240