[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.


CONCLUSIONS
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.
Yu
Y
Y
Department of Endocrinology, Affiliated Railway Hospital, Tongji University, Shanghai, 200072 P.R. China. yzy90@yahoo.com.cn
Shi
J
J
Shang
S
S
Teng
X
X
Li
W
W
Wu
Z
Z
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004272:DNA, Mitochondrial / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012335:RNA, Ribosomal / Q000235:genetics*
D004272:DNA, Mitochondrial; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S