Research progress of FYCO1 gene mutation

Authors:He Chenhao,  Li Yuying,  Zhong Zilin,  Chen Jianjun
DOI: 10.3760/cma.j.issn.2095-0160.2019.09.014
Published 2019-09-10
Cite as Chin J Exp Ophthalmol, 2019,37(9): 755-758.

Abstract

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.

Key words:

FYCO1; Congenital Cataracts; Autophagy

Contributor Information

He Chenhao
Department of Ophthalmology, Shanghai Tenth People’s Hospital, Tongji Eye Institute, Tongji University School of Medicine, Shanghai 200072, China
Li Yuying
Department of Medical Genetics, Tongji University School of Medicine, Shanghai 200092, China
Zhong Zilin
Department of Ophthalmology, Shanghai Tenth People’s Hospital, Tongji Eye Institute, Tongji University School of Medicine, Shanghai 200072, China
Chen Jianjun
Department of Medical Genetics, Tongji University School of Medicine, Shanghai 200092, China
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