Mitochondrial SNPs associated with Japanese centenarians, Alzheimer's patients, and Parkinson's patients

In this paper we examined the relations between three classes of people (96 Japanese centenarians, 96 Japanese Alzheimer's disease (AD) patients and 96 Japanese Parkinson's disease (PD) patients) and their mitochondrial single nucleotide polymorphism (mtSNP) frequencies at individual mitochondrial DNA (mtDNA) positions of the entire mt-genome by using the radial basis function (RBF) networks. As a result, we got new findings of mtSNPs for representing characteristics of individual classes. These mtSNPs show distinct differences for three classes of people. That is, individual classes of people are characterized by unique mtSNPs. Interestingly, Japanese centenarians are closely associated with haplogroup D4, Japanese AD patients with haplogroup G2a, and Japanese PD patients with haplogroup M7a. These characteristics of mtSNPs are different from those of previously reported works. As the amino acid replacement mtSNPs were at four mtDNA positions, it is indicated that mtSNPs of synonymous nucleotide substitutions as well as those of nonsynonymous nucleotide substitutions may play important roles in mitochondrial functions.