携带tRNA（Leu（UUR））突变的家族中，MELAS患者母系亲属的成人发病型糖尿病和神经感觉性听力损失。

Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation.

作者信息

Remes A M, Majamaa K, Herva R, Hassinen I E

机构信息

Department of Medical Biochemistry, University of Oulu, Finland.

出版信息

Neurology. 1993 May;43(5):1015-20. doi: 10.1212/wnl.43.5.1015.

DOI:10.1212/wnl.43.5.1015

PMID:8492919

Abstract

We describe a family with three cases of "clinically incomplete mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome" in which heteroplasmic tRNA(Leu(UUR)) mutation at nucleotide 3243 of the mitochondrial DNA was present in three generations. The amount of mutant genome varied among tissues: it was 60% in the kidney, 72% in the cardiac muscle, and 91% in the liver of the female proband's affected brother and 63% in the kidney, 71% in the cardiac muscle, and 71% in the liver of the female proband's perinatally deceased son. The tRNA(Leu(UUR)) mutation was also carried by the siblings of the proband's affected mother. None of them had any clinical signs of MELAS syndrome. This syndrome has the new feature of being associated with adult-onset diabetes mellitus, neurosensory hearing loss, and short stature.

摘要

我们描述了一个家族，其中有三例“临床不完全型线粒体脑肌病、乳酸酸中毒和卒中样发作（MELAS）综合征”，线粒体DNA第3243位核苷酸处的异质性tRNA（Leu（UUR））突变存在于三代人中。突变基因组的数量在不同组织中有所不同：在患病女性先证者的患病兄弟的肾脏中为60%，在心肌中为72%，在肝脏中为91%；在患病女性先证者围产期死亡儿子的肾脏中为63%，在心肌中为71%，在肝脏中为71%。先证者患病母亲的兄弟姐妹也携带tRNA（Leu（UUR））突变。他们中没有人有MELAS综合征的任何临床症状。该综合征具有与成人发病的糖尿病、神经感觉性听力丧失和身材矮小相关的新特征。