Impairment of tRNA processing by point mutations in mitochondrial tRNALeu(UUR) associated with mitochondrial diseases
Impairment of tRNA processing by point mutations in mitochondrial tRNALeu(UUR) associated with mitochondrial diseases
复制标题
DOI：
10.1016/s0014-5793(98)00928-4
复制
发表时间：
1998-08-21
期刊：
影响因子：
3.5
通讯作者：
Karwan, RM
中科院分区：
文献类型：
--
作者：
Rossmanith, W;Karwan, RM
线粒体tRNA基因中的几个点突变与线粒体疾病的不同临床亚组有关。在tRNA（Leu）（UUR）基因中发现了特别大量的不同突变。我们发现，碱基替换在线粒体基因组的核苷酸位置3256，3260，和3271，位于D和反密码子干这个tRNA，和突变3243改变一个碱基参与三级相互作用，显着损害的tRNA前体在体外的处理。与其他研究相关，我们的研究结果表明，线粒体tRNA（Leu）（UUR）的某些突变变体的低效加工是导致线粒体功能障碍并因此导致疾病的主要分子损伤。(C)1998年欧洲生物化学学会联合会。
Several point mutations in mitochondrial tRNA genes have been linked to distinct clinical subgroups of mitochondrial diseases. A particularly large number of different mutations is found in the tRNA(Leu)(UUR) gene. We show that base substitutions at nucleotide position 3256, 3260, and 3271 of the mitochondrial genome, located in the D and anticodon stem of this tRNA, and mutation 3243 changing a base involved in a tertiary interaction, significantly impair the processing of the tRNA precursor in vitro. In correlation with other studies, our results suggest that inefficient processing of certain mutant variants of mitochondrial tRNA(Leu)(UUR) is a primary molecular impairment leading to mitochondrial dysfunction and consequently to disease. (C) 1998 Federation of European Biochemical Societies.