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Human mitochondrial tRNA modification and inherited encephalomyopathies

文献类型：期刊论文

作者Hao, R; Wang, ED
刊名PROGRESS IN BIOCHEMISTRY AND BIOPHYSICS
出版日期2006
卷号33期号:5页码:418-422
关键词mitochondrial tRNA wobble nucleotide base modification encephalomyopathies molecular mechanism
通讯作者Wang, ED (reprint author), Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Biochem & Cell Biol, State Key Lab Mol Biol, Shanghai 200031, Peoples R China.,edwang@sibs.ac.cn
英文摘要Mutations in human mitochondrial tRNA genes are responsible for a variety of human inherited diseases. Investigations of the molecular mechanisms of these diseases are of great interest for nowadays scientists. According to the study of post-transcriptional modification patterns of human mitochondrial tRNAs, novel taurine-containing modifications were identified at the anticodon wobble nucleotides of mitochondrial tRNA(Leu) (UUR) and tRNA(Lys). Recently, it was reported that mitochondrial tRNAs harboring one of those encephalomyopathies related mutations, such as A8344G, A3243G, T3271C etc., lacked the normal taurine-containing modification at their anticodon wobble positions. Wobble modification deficiencies of mutant mitochondrial tRNAs were found from cybrid cells, as well as from patient tissues. Molecular surgery experiments showed that the wobble modification is essential for the interaction between the anticodon in tRNA and the codon in mRNA. Furthermore, the enzyme that is responsible for the formation of the modification was identified and characterized. These studies strongly suggested a key molecular factor responsible for the inherited mitochondrial encephalomyopathies and could potentially lead to the development of a gene therapy for these diseases.
学科主题Biochemistry & Molecular Biology; Biophysics
类目[WOS]Biochemistry & Molecular Biology ; Biophysics
关键词[WOS]WOBBLE MODIFICATION DEFICIENCY ; TRANSFER RNALEU(UUR) GENE ; MUTANT TRANSFER-RNAS ; STROKE-LIKE EPISODES ; MODIFICATION DEFECT ; LACTIC-ACIDOSIS ; MUTATION ; DISEASE ; ENCEPHALOPATHY ; NUCLEOTIDE
收录类别SCI
语种中文
WOS记录号WOS:000237610400002
版本出版稿
源URL[http://202.127.25.143/handle/331003/1720]  
专题上海生化细胞研究所_上海生科院生化细胞研究所
推荐引用方式
GB/T 7714		 Hao, R,Wang, ED. Human mitochondrial tRNA modification and inherited encephalomyopathies[J]. PROGRESS IN BIOCHEMISTRY AND BIOPHYSICS,2006,33(5):418-422.
APA Hao, R,&Wang, ED.(2006).Human mitochondrial tRNA modification and inherited encephalomyopathies.PROGRESS IN BIOCHEMISTRY AND BIOPHYSICS,33(5),418-422.
MLA Hao, R,et al."Human mitochondrial tRNA modification and inherited encephalomyopathies".PROGRESS IN BIOCHEMISTRY AND BIOPHYSICS 33.5(2006):418-422.

入库方式： OAI收割

来源：上海生物化学与细胞生物学研究所

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