Study on the mitochondrial DNA mutations in patients with early-onset diabetes mellitus / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 14-17, 2005.
Article
in Chinese
| WPRIM
| ID: wpr-321170
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the prevalence of mitochondrial DNA (mtDNA) mutations in patients with early-onset diabetes in Tianjin, and to explore the relationship between mtDNA mutations and diabetes.</p><p><b>METHODS</b>348 non-related patients whose age at onset of diabetes was less than 45 years were randomly recruited, and 207 non-related and non-diabetic subjects were enrolled as controls. All their clinical and biochemical data were collected. Total genome was extracted conventionally from the participants' peripheral leucocytes, and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and cloning techniques were applied to the screening of mtDNA mutations (including the 3316, 3394 and 3426 in ND1 region, 12026 in ND4 region, and tRNA [Leu(UUR)] 3243 A-->G mutation).</p><p><b>RESULTS</b>The authors found 17 diabetics harboring the 12026 A-->G mutation in ND4 region (4.9%), 10 diabetics with mutations in ND1 region (including 5 diabetics with the 3394 T-->C mutation, 4 diabetics with 3316 G-->A mutation, one with 3426 A-->G mutation), and only two with the known 3243 A-->G mutation (0.6%). On the contrary, one control subject with the 3316 G-->A mutation, two with 3394 T-->C mutation and four with 12026 A-->G mutation were found. The prevalence of mtDNA mutations in the patient group is significantly higher than that in the control group (3.3%) (P<0.05).</p><p><b>CONCLUSION</b>The above findings suggest that mtDNA mutation may be implicated in the pathogenesis of the examined diabetes.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Polymorphism, Restriction Fragment Length
/
DNA, Mitochondrial
/
DNA Mutational Analysis
/
Logistic Models
/
Chemistry
/
China
/
Polymerase Chain Reaction
/
Epidemiology
/
Age of Onset
Type of study:
Prognostic study
/
Risk factors
Limits:
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2005
Type:
Article
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