TFEB在溶酶体贮积症中的调控作用及研究进展

The Regulatory Role and Research Progress of TFEB in Lysosomal Storage Disease

溶酶体贮积症是一种罕见的遗传缺陷疾病,由于编码溶酶体水解酶、膜转运蛋白或运输蛋白的基因突变,最终导致细胞功能障碍。转录因子EB (TFEB)是自噬和溶酶体生物发生的主要调节因子,可促进溶酶体合成及溶酶体功能的恢复。本文总结了TFEB的调节机制及TFEB的小分子激动剂在溶酶体贮积症的治疗作用及研究进展。

Lysosomal storage disorder is a rare genetic defect disorder that ultimately leads to cell dysfunction due to mutations in genes encoding lysosomal hydrolases, membrane transporters, or transport proteins. The transcription factor EB (TFEB) is a major regu-lator of autophagy and lysosomal biogenesis, which promotes lysosomal synthesis and the recovery of lysosomal function. This article summarizes the regulatory mechanism of TFEB and the thera-peutic effect and research progress of small molecule agonists of TFEB in lysosomal storage disease.