Search for difference in aminoacylation of mitochondrial DNA-encoded wild-type and mutant human tRNALeu (UUR).

Abstract:

:The pathogenetic mechanism of the most extensively investigated A3243G mutated tRNALeu(UUR) gene, which causes the MELAS encephalomyopathy, maternally inherited diabetes, or chronic progressive external ophlthalmoplegia, is still unresolved, despite the numerous investigations on the topic. Previous evidences presented in published work suggested that the mitochondrial DNA harboring A3243G mutation result decreases in the rates of mitochondrial protein synthesis. To search for differences in aminoacylation of mitochondrial DNA-encoded wild-type and mutant human tRNALeu(UUR), we have expressed and purified the two kinds of tRNAsLeu(UUR), and have expressed human mitochondrial leucyl-tRNA synthetase for in vitro assays of aminoacylation of wild-type and mutant human tRNALeu(UUR). The results indicate human mitochondrial tRNALeu(UUR) gene A3243G point mutant can remarkably reduce its aminoacylation, suggesting it could be one of the mechanisms that the mutation can produce in such clinical phenotypes.

journal_name

IUBMB Life

journal_title

IUBMB life

authors

Wang ZC,Wang XM,Jin YX,Jiao BH,Xu F,Miao MY,Zhu KJ

doi

10.1080/1521654031000110190

keywords:

subject

Has Abstract

pub_date

2003-03-01 00:00:00

pages

139-44

issue

3

eissn

1521-6543

issn

1521-6551

journal_volume

55

pub_type

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