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Reduction of mitochondrial tRNA Leu (UUR) aminoacylation by some MELAS‐associated mutations
Author(s) -
Hao Rui,
Yao Yong-Neng,
Zheng Yong-Gang,
Xu Min-Gang,
Wang En-Duo
Publication year - 2004
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/j.febslet.2004.11.004
Subject(s) - heteroplasmy , mitochondrial myopathy , melas syndrome , lactic acidosis , biology , aminoacylation , mitochondrial dna , microbiology and biotechnology , transfer rna , biochemistry , mitochondrion , genetics , gene , rna
The mitochondrial myopathy, encephalopathy, lactic acidosis and stroke‐like episodes syndrome (MELAS) is a rare congenital disorder of mitochondrial DNA. Five single nucleotide substitutions within the human mitochondrial tRNA Leu (UUR) gene have been reported to be associated with MELAS. Here, we provide in vitro evidence that the aminoacylation capacities of these five hmtRNA Leu (UUR) transcripts are reduced to different extents relative to the wild‐type hmtRNA Leu (UUR) transcript. A thermal denaturation experiment showed that the A3243G and T3291C mutants, which were the least charged by LeuRS, have fragile structures. In addition, the T3291C mutant can inhibit aminoacylation of the wild‐type hmtRNA Leu (UUR), indicating that it may act as an inhibitor in the mitochondrial heteroplasmic environment.