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.
机构:
Chinese Peoples Liberat Army Gen Hosp, Inst Geriatr Cardiol, Beijing, Peoples R ChinaChinese Peoples Liberat Army Gen Hosp, Inst Geriatr Cardiol, Beijing, Peoples R China
Liu Yuqi
Liyang
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机构:
Chinese Peoples Liberat Army Gen Hosp, Inst Geriatr Cardiol, Beijing, Peoples R ChinaChinese Peoples Liberat Army Gen Hosp, Inst Geriatr Cardiol, Beijing, Peoples R China
机构:
IRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, ItalyIRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, Italy
Capristo, Mariantonietta
Del Dotto, Valentina
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IRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, ItalyIRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, Italy
Del Dotto, Valentina
Tropeano, Concetta Valentina
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IRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, ItalyIRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, Italy
Tropeano, Concetta Valentina
Fiorini, Claudio
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IRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, ItalyIRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, Italy
Fiorini, Claudio
Caporali, Leonardo
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IRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, ItalyIRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, Italy
Caporali, Leonardo
La Morgia, Chiara
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IRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, ItalyIRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, Italy
La Morgia, Chiara
Valentino, Maria Lucia
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机构:
IRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, Italy
Univ Bologna, Dept Biomed & NeuroMotor Sci, Via Altura 3, I-40139 Bologna, ItalyIRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, Italy
Valentino, Maria Lucia
Montopoli, Monica
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机构:
Univ Padua, Dept Pharmaceut & Pharmacol Sci, Via Largo Meneghetti 2, I-3513 Padua, ItalyIRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, Italy
Montopoli, Monica
Carelli, Valerio
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机构:
IRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, Italy
Univ Bologna, Dept Biomed & NeuroMotor Sci, Via Altura 3, I-40139 Bologna, ItalyIRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, Italy
Carelli, Valerio
Maresca, Alessandra
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IRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, ItalyIRCCS Ist Sci Neurol Bologna, Programma Neurogenet, Via Altura 3, I-40139 Bologna, Italy