Mitochondrial Aminoacyl-tRNA Synthetases Related to Human Diseases
- VernacularTitle:与人类疾病相关的几种线粒体氨基酰-tRNA合成酶
- Author:
Xiaolong ZHOU
;
Enduo WANG
- Publication Type:Journal Article
- Keywords:
mitochondrion, aminoacyl-tRNA synthetase, disease
- From:
Progress in Biochemistry and Biophysics
2006;0(08):-
- CountryChina
- Language:Chinese
-
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.
