Novel Mitochondrial DNA Mutation in tRNALys(8296A → G) Associated with Diabetes
| Autor: | Eun Sasaki, Haruko Kitaoka, Kanako Azukari, Keizo Furukawa, Shin-Ichi Haginomori, Keiichi Kameoka, Yukari Fujimura, Koji Tanaka, Nakaaki Ohsawa, Motoko Majima, Yasushi Shiota, Haruhiko Isotani |
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| Rok vydání: | 1998 |
| Předmět: |
Male
Proband Candidate gene Mitochondrial DNA Non-Mendelian inheritance medicine.medical_specialty Diabetes mellitus and deafness DNA Mutational Analysis Molecular Sequence Data Biophysics Deafness Biology DNA Mitochondrial Biochemistry Japan Diabetes mellitus Internal medicine Diabetes Mellitus medicine Humans Point Mutation Genetic Testing Molecular Biology Genetics Base Sequence Point mutation Cell Biology medicine.disease Pedigree Diabetes Mellitus Type 1 Endocrinology Diabetes Mellitus Type 2 Mutation (genetic algorithm) RNA Transfer Lys Female |
| Zdroj: | Biochemical and Biophysical Research Communications. 245:523-527 |
| ISSN: | 0006-291X |
| Popis: | Mutation in the mitochondrial gene at position 3243 was recently identified in a large pedigree of diabetes mellitus and deafness. As the mitochondria play an important role in glucose-stimulated insulin secretion in pancreatic beta-cells, we therefore searched for such mutations to detect a candidate gene for diabetes. We screened 10 diabetic subjects with clinical features suggesting mitochondrial DNA mutations. An adenine to guanine point mutation in tRNA(Lys) in at position 8296 (the 8296 mutation) was newly identified. Subsequently, we screened 1216 diabetic subjects, 44 patients with sensorineural deafness subjects and 300 non-diabetic control subjects for this mutation. We identified the mutation in 11 (0.90%) unrelated diabetic subjects, one (2.3%) patient with deafness and no non-diabetic control subject. Seven of these 12 subjects showed maternal inheritance. Deafness was seen in 7 of 12 probands. Four family pedigrees showed maternal inheritance of diabetes over two or three generations. Subjects carrying the 8296 mutation may develop diabetes and the mutation can explain as high as ca. 1% of the causes of diabetes. |
| Databáze: | OpenAIRE |
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