FYCO1基因突变研究进展

Research progress of FYCO1 gene mutation

FYVE and coiled-coil domain containing 1(FYCO1)是一种细胞自噬过程的衔接因子,含有RUN结构域、卷曲螺旋结构域、FYVE结构域、GOLD域和LIR结构域。FYCO1蛋白的表达十分广泛,主要与Atg8家族蛋白、基于微管的驱动蛋白和磷脂酰肌醇-3-磷酸(PI3P)等相互作用。FYCO1蛋白参与驱动蛋白沿微管的运动过程以及自噬囊泡向微管正末端定向转运的过程,并与人类晶状体的发育和透明度的维持有关。FYCO1基因突变是导致人类常染色体隐性遗传先天性白内障的原因之一,该突变可抑制自噬体向溶酶体转运的过程,导致晶状体纤维细胞中线粒体和其他细胞器降解过程失败,使晶状体发生混浊,从而形成白内障。目前,在FYCO1上已鉴定出18个与白内障相关的基因突变。此外,FYCO1蛋白还在细胞分裂等生命过程中扮演重要角色,并与帕金森病、癌症、散发性包涵体肌炎、瘢痕瘤等多种疾病之间存在联系。本文就目前FYCO1基因突变的研究进展进行综述。

FYVE and coiled-coil domain containing 1(FYCO1)is an adaptor of cellular autophagy which has RUN domain,coiled coil domain,FYVE domain,GOLD domain and LIR domain.FYCO1 protein is widely expressed and mainly interacts with Atg8 family proteins,microtubule-based kinesins,phosphatidylinositol-3-phosphate(PI3P).The FYCO1 protein involved in the movement of kinesins along microtubules and the microtubule plus end-directed transport of autophagy vesicles and related to the development and transparency maintenance of human lens.FYCO1 mutations are one of the causes inducing autosomal recessive congenital cataract.Mutations of FYCO1 can inhibit the process of autophagosome transport to lysosomes,leading to the failure of mitochondrial and other organelle degradation processes in lens fibroblasts and causing opacity of the lens.Eighteen cataract-related mutations have been identified in FYCO1 currently.In addition,FYCO1 protein plays an important role in life processes,such as cell division,and is associated with various diseases,such as Parkinson's disease,cancer,sporadic inclusion body myositis and keloid.This article reviewed the current research progress of FYCO1 gene mutations.