| Co-Investigator(Kenkyū-buntansha) |
TAKEUCHI Yasuo Yamaguchi University Hospital Resident, 医学部・附属病院, 医員
TAKEUCHI Hideo Yamaguchi University Hospital Resident, 医学部・附属病院, 医員
UEDA Kouhei Yamaguchi University Hospital Resident, 医学部・附属病院, 医員
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| Research Abstract |
To investigate the prevalence and clinical characteristics of diabetes mellitus caused by mitochondrial gene mutations in the tRNALeu (UUR), we screened 440 diabetic patients with diabetic mothers for mitochondrial gene mutations at nucleotide pair (np) 3250,3256,3260,3271 and 3291 in addition to an A to G transition at up 3243. The dot-blot hybridization method using 32P-labeled sequence-specific oligonucleotides (SSO) as probes was employed in this study. While no diabetic patients having a point-mutation at np 3250,3256,3260 or 3291 were found, one carrying a T to C transition at np 3271 and seven carrying an A to G transition at 3243 were identified. The patient with the 3271 mutation, a 39-year-old male, had excellent glycemic control with diet therapy alone and had neither hearing impairment nor symptoms suggesting mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). In summary, among diabetic patients, the prevalence of the 3271 mutation was about 14% that of the 3243 mutation, while other mutations in the tRNALeu (UUR) are even more rare in maternally transmitted diabetes.
We have also cloned the gene involved in glucose-induced insulin secretion from pancreatic beta cells, hGIRK2 and mGPDH,and analyzed the mutations of these genes in Japanese diabetic patients.
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