Association of mitochondrial DNA variation with type 2 diabetes mellitus / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 636-640, 2005.
Article
in Chinese
| WPRIM
| ID: wpr-279981
ABSTRACT
<p><b>OBJECTIVE</b>To explore the prevalence of mitochondrial DNA (mtDNA) mutations in patients with type 2 diabetes mellitus in Hubei.</p><p><b>METHODS</b>A total of 184 cases of type 2 diabetes mellitus and 210 matched healthy controls with normal glucose tolerance were recruited for the study. The variants of mtDNA, including MIND13316 (G-->A), MIND13394 (T-->C), MTTE14693 (A-->G), MTTL1 3243 (A-->G), MTRNA1310 (C-->T) and 16189 (T-->C), were screened using PCR-restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing. The mutations were analyzed by mfold or tRNAscan-SE softwares.</p><p><b>RESULTS</b>The mutation rates of 3316 (G-->A), 3394 (T-->C), 14693 (A-->G) were 3.26%, 2.72% and 2.17% respectively in type 2 diabetes group, whereas in the control group, the point mutations of 3394 (T-->C) and 14693 (A-->G) were not detected, but two subjects with 3316 (G-->A) were found (0.99%). There were significant differences in mutation rates of 3394 (T-->C) and 14693 (A-->G) between the two groups (P<0.05). In 4 of 184 cases, a T to C transition at nucleotide position 14693 was uncovered for the first time. The prevalence of 16189 variant among type 2 diabetes was significantly higher that of the controls (36.9% vs 26.6%, P=0.03). Moreover, the type 2 diabetes with 16189 variant showed higher fasting serum insulin level and higher HOMA-IR level than those without 16189 variant; stepwise multiple regression analysis showed the 16189 variant was an independent factor contributing to HOMA-IR (R(2)=0.043, P=0.037). Secondary structure prediction revealed that there were differences in 3394 T-->C vs wild-type ND1 protein and in 14693 A-->G vs wild-type tRNA(Glu) protein.</p><p><b>CONCLUSION</b>The mutations of 3394 (T-->C) and 14693 (A-->G) may contribute to the genetic predisposition to type 2 diabetes; 16189 (T-->C) variant is associated with insulin resistance and risk factor of diabetes.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Blood
/
Polymorphism, Restriction Fragment Length
/
DNA, Mitochondrial
/
Insulin Resistance
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Chemistry
/
Polymerase Chain Reaction
/
Point Mutation
Type of study:
Prognostic study
Limits:
Aged
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2005
Type:
Article
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