FUS/TLS在基因表达调控中的作用及与神经退行性疾病的关系

The Role of FUS/TLS in the Regulation of Gene Expression and the Correlation with Neurodegenerative Diseases

神经退行性疾病是一种神经元变性和继发性脱髓鞘所引起的慢性病,近年研究发现一种DNA/RNA结合蛋白——肉瘤融合/脂肪肉瘤转运蛋白(FUS/TLS)与肌萎缩侧索硬化症(ALS)、额颞叶痴呆(FTD)及多聚谷氨酰胺疾病等神经退行性病变相关.FUS/TLS的变异或失功能可引起相关基因转录和RNA加工、转运、翻译等过程出现异常,并且这些异常与神经退行性疾病发生发展高度相关.FUS/TLS的发现和相关研究不但有助于在RNA水平上对神经退行性疾病的认识,也为神经退行性疾病的防治提供一种新的思路.

Neurodegenerative diseases are chronic lesions caused by neuronal degeneration and secondary demyelination. Recent studies have shown that a DNA/RNA binding protein named fused in sarcoma/translocated in liposarcoma protein（FUS/TLS） is associated with neurodegenerative diseases, such as amyotrophic lateral sclerosis（ALS）,frontotemporal dementia（FTD） and polyglutamine diseases. Mutations or dysfunction in FUS/TLS are responsible for the abnormal processes in the related gene transcription, RNA processing, transportation and translation and are highly correlated with the development of neurodegenerative disease. Discovery and the research of FUS/TLS not only contribute to the understanding of neurodegenerative disease at RNA level,but also provide a new way for the prevention and treatment of neurodegenerative diseases.