Ataxin-3与相关疾病的分子机制的研究进展

Review about research progress of molecular mechanism of Ataxin-3 and related diseases

Ataxin-3(AT3,ATXN3)是一种重要的去泛素化酶,正常情况下,它参与基因转录、蛋白代谢、磷酸化以及自身泛素化水平的调节。然而突变的Ataxin-3的表达可致转录失调,导致细胞毒性和神经退行性变疾病,如脊髓小脑共济失调3(SCA3)。AT3的异常不仅能导致神经性病变,而且据最近世界各地的研究表明,AT3的失调可能涉及一些人类癌症或者癌症前期病变(如胃癌、乳腺癌、肺癌、睾丸癌、肝硬化等)的发病机制。虽然目前国内关于ATXN3的研究较少,但在国外已经有大量研究报道,该综述主要总结它的功能与疾病的关系。

Ataxin-3(AT3,ATXN3) is an important deubiquitination enzyme,which is normally involved in the regulation of gene transcription,protein metabolism,phosphorylation and its own ubiquitination level.However,mutated Ataxin-3 expression can not only lead to neuropathies,but also,according to recent studies around the world,AT3 disorders may be involved in the pathogenesis of some human cancer or precancerous lesions(such as gastric cancer,breast cancer,lung cancer,testicular cancer,liver cirrhosis,etc.).Although there are few domestic studies on Ataxin-3,a large number of studies have been reported abroad.This review mainly summarizes the relationship between its function and disease.