Mitochondrial DNA 8 point mutations in patients with type II diabetes mellitus / 中国病理生理杂志

ABSTRACT

AIM: To explore the relationship between various mitochondrial (mt) DNA tRNA Leu (UUR) and ND1 gene mutations and type 2 diabetes mellitus (T2DM) among Chinese in Hubei Province. METHODS: PCR restriction fragment length polymorphism (PCR-RFLP) analysis was used to screen point mutations of mtDNA ( 3 243, 3 256, 3 290, 3 316, 3 394, 3 421, 3 426, 3 460, 3 593) in 174 T2DM and 207 healthy controls. Then, DNA sequencing, reverse dot blot hybridization and Genchip were used to compare and confirm mutations. All mutations were analyzed by DNASTAR and Antherprot softwares. RESULTS: In diabetic group, there were 5 carriers (2.9%) of 3 316 G→A (Ala→Thr) mutation, 4 (2.3%) of 3 394 T→C (Tyr→His) mutation, 1 (0.6%) of 3 593 T→C(Val→Ala) mutation, and 1 (0.6%) of 3 618 T→C(Phe→Phe) mutation. Among 3 316 (G→A) mutations , there were more than 1 point mutations in 2 cases, one accompanied with 3 256 C→T(Arg→Arg) and 3 688 G→C (Ala→Pro) mutations, another accompanied with 3 606 A→G(Leu→Leu) mutation. 3 606 (A→G), 3 618 (T→C) and 3 688 (G→C) were novel mutations, GenBank accession number is DQ092356. In controls, only 3 316 (G→A) mutation was found in 1 subject (0.5%). There was significant difference between two groups for 3 394 (T→C) mutation frequencies (P