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[Mutations of mitochondrial 12S rRNA gene in type 2 diabetes]
1Department of Endocrinology, Affiliated Railway Hospital, Tongji University, Shanghai, 200072 P.R. China. yzy90@yahoo.com.cn
Objective:
To investigate mutations at points 1310, 1438 and 1442 of mitochondrial 12S rRNA gene in Chinese type 2 diabetes and screen for new mutations associated with type 2 diabetes in this area.
Methods:
The mitochondrial DNAs (mtDNAs) of 86 patients with type 2 diabetes and those of 70 normal controls were analyzed using PCR-SSCP and PCR product direct sequencing technique.
Results:
One patient was found with the mitochondrial DNA G --> A mutation at point 1438, and one with the G two head right arrow A mutation at point 1442, whereas none of the normal controls was found to have mutation at these two points. No C --> T mutation at nucleotide pair 1310 of the mitochondrial 12S rRNA gene was identified.
Conclusion:
The G --> A mutation at points 1438 and 1442 is likely to be associated with the development of type 2 diabetes; the occurrence of the C -->T mutation at point 1310 is probably rare in the blood cells, and the development of type 2 diabetes may be related to heterogeneity in mitochondrial genetic changes.