Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease

被引:0
作者
Jansen, JJ
Maassen, JA
VanderWoude, FJ
Lemmink, HAJ
VandenOuweland, JMW
THart, LM
Smeets, HJM
Bruijn, JA
Lemkes, HHPJ
机构
[1] UNIV LEIDEN HOSP,DEPT BIOCHEM MED,NL-2300 RC LEIDEN,NETHERLANDS
[2] UNIV LEIDEN HOSP,DEPT NEPHROL,NL-2300 RC LEIDEN,NETHERLANDS
[3] UNIV LEIDEN HOSP,DEPT PATHOL,NL-2300 RC LEIDEN,NETHERLANDS
[4] UNIV NIJMEGEN HOSP,DEPT HUMAN GENET,NL-6500 HB NIJMEGEN,NETHERLANDS
来源
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | 1997年 / 8卷 / 07期
关键词
D O I
暂无
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
Several studies show an association of a guanine for adenine substitution (A --> G) at position 3243 in mitochondrial DNA (mtDNA) with a recently recognized diabetic subtype designated maternally inherited diabetes and deafness (MIDD). This mutation shows heterogeneity in its phenotypic expression as is apparent from its association with several other syndromes. Screening for the 3243A --> G mutation in mtDNA was performed in those diabetic patients attending the Leiden University Hospital diabetics clinic who had a history of maternally inherited diabetes, sensorineural hearing loss, or both. Four individuals from three unrelated families were identified who suffered from progressive nondiabetic kidney disease in association with diabetes mellitus and hearing loss, The mode of inheritance suggested maternal transmission. The combination of renal failure and hearing loss had been misdiagnosed as Alport syndrome in three of the four individuals. Therefore, in addition to these three families, another 63 unrelated patients with possible Alport syndrome were selected at random. DNA from peripheral blood and other tissues from members of the three families and from the 63 additional Alport syndrome patients was examined for the presence of the 3243A --> G mutation in mtDNA. The mutation was detected in heteroplasmic form in the four patients and their maternal relatives. Also, one of the 63 suspected Alport syndrome patients showed heteroplasmy for the 3243 mutation. These data show the existence of a kidney disease that is characterized by the presence of the A --> G mutation at position 3243 in the mtDNA.
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页码:1118 / 1124
页数:7
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