engleski

Mitochondrial DNA point mutation A3243G in NIDDM persons (the pilot study)

The role of maternally inherited mitochondrial DNA has been recently described in pathogenesis of diabetes mellitus. The most frequently studied mitochondrial DNA point mutation A3243G has been associated with diabetes, deafness and MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes). The aim of this study was testing NIDDM persons with maternal inheritance for presence of the mitochondrial DNA point mutation A3243G. Twenty two NIDDM persons from diabetic mothers (19 females and 3 males), aged 32-76 years and 22 healthy nondiabetic persons (19 female and 3 males), aged 25-55 years were screened. DNA was isolated from oral mucosa smears and peripheral blood lymphocytes. PCR was performed using primers for the A3243G mutation on DNA isolates. Verification of PCR products on 2% agarose gel was followed by digestion with a restrictive HaEIII enzyme. The restriction fragments were tested by restriction fragment length polymorphism (RFLP) test on polyacrylamide/bisacrylamide gel electrophoresis. Analysis of DNA from mouth mucosa yielded better results than DNA analysis from peripheral blood. Mitochondrial point mutation A3243G was detected in DNA from mouth mucosa of two out of 22 patients. One patient was a young man with hearing and visual impairments and proteinuria. Another patient was a young woman having proteinuria and no other renal impairment. Mitochondrial mutation A3243G was not detected in any DNA sample from the control group.The results of this pilot study correlate with data reported in previous epidemiology reports. In addition, it could be concluded that oral mucosa smears can be used in large epidemiological studies, rather than peripheral blood samples.

mitohondrijska DNA ; mutacija ; dijabetes melitus

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