[Mutations of mitochondrial 12S rRNA gene in type 2 diabetes].

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.