[Prevalence and clinical characteristics of the mitochondrial tRNA(Leu(UUR)) gene 3243 A to G mutation in familial diabetes mellitus in Chinese population].
OBJECTIVE
To study the prevalence and clinical characteristics of the A to G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in familial diabetes in Shanghai, Jiangsu and Zhejiang Province of China.


METHODS
The mt3243 A to G mutation in 770 randomly selected, unrelated probands of diabetic pedigrees were screened by PCR-RFLP technique and PCR-direct sequencing. Genetic and clinical analyses were further performed in the probands and their family members.


RESULTS
Thirteen diabetic patients (13/770, 1.69%) with mt3243 A to G mutation were detected. Eleven diabetic patients and 8 normal glucose tolerance (NGT) first-degree relatives of these 13 probands were also found bearing the mutation. Seventeen patients were associated with sensory hearing loss. In the 24 patients harboring the mutation, the majority had lower body mass index (BMI), 18 showed typical maternal inheritance, 15 had sensory hearing loss, 13 had insulin resistance and 14 required insulin therapy due to secondary failure to oral hypoglycemic agents.


CONCLUSIONS
The mutation of mt3243 A to G in the mitochondrial tRNA(Leu(UUR)) gene is an important cause of diabetes in Shanghai, Jiangsu and Zhejiang Province of China. Mitochondrial gene mutation diabetes (MDM) is clinically characterized by early onset, emaciation, maternal inheritance, sensorineural hearing loss, and lower islet beta cell function, and some have insulin resistance.
Wang
Sui-jun
SJ
Department of Endocrinology, Henan Provincial peopleos Hospital, Zhengzhou, Henan, People's Republic of China.
Wu
Song-hua
SH
Zheng
Tai-shan
TS
Wang
Ling
L
Lu
Hui-juan
HJ
Xiang
Kun-san
KS
D044466:Asian People / Q000235:genetics; D002681:China / Q000453:epidemiology; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D003920:Diabetes Mellitus / Q000235:genetics*; D005820:Genetic Testing; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D015995:Prevalence; D012346:RNA, Transfer, Amino Acyl / Q000235:genetics*
D004272:DNA, Mitochondrial; D012346:RNA, Transfer, Amino Acyl