Novel mitochondrial DNA mutation in tRNALys (8296A→G) associated with diabetes

被引:66
|
作者
Kameoka, K
Isotani, H
Tanaka, K
Azukari, K
Fujimura, Y
Shiota, Y
Sasaki, E
Majima, M
Furukawa, K
Haginomori, S
Kitaoka, H
Ohsawa, N
机构
[1] Hirakata City Hosp, Dept Internal Med, Hirakata, Osaka 5731013, Japan
[2] Osaka Med Coll, Dept Internal Med 1, Osaka, Japan
[3] Osaka Med Coll, Dept Otolaryngol, Osaka, Japan
关键词
diabetes; deafness; mitochondria; tRNA(Lys); point mutation;
D O I
10.1006/bbrc.1998.8437
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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. (C) 1998 Academic Press.
引用
收藏
页码:523 / 527
页数:5
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