[Study on the mitochondrial DNA variation in patients with type 2 diabetes mellitus].
OBJECTIVE
To explore the relationship between type 2 diabetes mellitus (T2DM) and the mutations in the fragment of mitochondrial DNA (mtDNA) from nucleotides 3153 to 3551, which have shown high frequency of point mutation.


METHODS
One hundred and ninety-one normal controls and 222 patients with T2DM were screened by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), T-A cloning sequencing and denatured high performance liquid chromatography (DHPLC) techniques.


RESULTS
The prevalence of mtDNA mutations in the patient group (24.32%) was significantly higher than that in the control group (7.33%) (P < 0.05). Three novel mutations of A3209T, T3253G and A3467C were found, and C3497T was first reported in DM. Onset age, body mass index, fasting blood glucose, HbA1C, high density lipoprotein-cholesterol and diabetic nephropathy could be related to occurrence of mtDNA mutations (P < 0.05).


CONCLUSIONS
Mitochondrial DNA mutations might implicate T2DM in Wenzhou population, which should play an important role in the pathogenesis of T2DM.
Ji
Jing-zhang
JZ
Laboratory Medicine School, Zhejiang Provincial Key Laboratory of Medical Genetics, Wenzhou Medical College, Wenzhou, Zhejiang, 325035 PR China.
Lu
Jian-xin
JX
Ye
Wei
W
Hu
Xin
X
Wang
Da-wang
DW
D000328:Adult; D000368:Aged; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
D004272:DNA, Mitochondrial