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Mitochondrial Aminoacyl-tRNA Synthetases Related to Human Diseases / 生物化学与生物物理进展
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-592398
Responsible library: WPRO
ABSTRACT
Aminoacyl-tRNA synthetase is a class of ancient proteins, catalyzing the first reaction of protein biosynthesis. It has been found that they also participate in a lot of other cellular processes such as editing, tRNA maturation and transfer, RNA cleavage and function as cellular factors. Recent studies showed that some mitochondrial aminoacyl-tRNA synthetases are closely related with human diseases. A single point mutation in intervening sequence 2 (IVS2) of human mitochondrial arginyl-tRNA synthetase gene causes abnormal cleavage of its transcript, resulting in pontocerebellar hypoplasia. A series of mutations in human mitochondrial aspartyl-tRNA synthetase gene cause rapid decay of its mRNA or alteration in protein primary sequence, leading to leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. A single nucleotide polymorphism in human mitochondrial leucyl-tRNA synthetase is significantly associated with type 2 diabetes. These results further enhance our understanding about the cellular function of aminoacyl-tRNA synthetase and promote studies toward the mechanism and therapy of aminoacyl-tRNA synthetase-causing mitochondrial diseases.

Full text: Available Database: WPRIM (Western Pacific) Language: Chinese Journal: Progress in Biochemistry and Biophysics Year: 2006 Document type: Article
Full text: Available Database: WPRIM (Western Pacific) Language: Chinese Journal: Progress in Biochemistry and Biophysics Year: 2006 Document type: Article
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