Adult-Onset Neuronal Ceroid Lipofuscinosis With a Novel DNAJC5 Mutation Exhibits Aberrant Protein Palmitoylation

• Type of Material: Article
• Authors: Qiang Huang, Shanghai Jiao Tong University; Yong-Fang Zhang, Shanghai Jiao Tong University; Lin-Jie Li, Shanghai Tech University; Eric Dammer, Emory University; Yong-Bo Hu, Shanghai Jiao Tong University; Xin-Yi Xie, Shanghai Jiao Tong University; Ran Tang, Shanghai Jiao Tong University; Jian-Ping Li, Shanghai Jiao Tong University; Jin-Tao Wang, Shanghai Jiao Tong University; Xiang-Qian Che, Shanghai Jiao Tong University; Gang Wang, Shanghai Jiao Tong University; Ru-Jing Ren, Shanghai Jiao Tong University
• Language: English
• Date: 2022-04-08
• Publisher: FRONTIERS MEDIA SA
• Publication Version: Final Published Version
• Copyright Statement: © 2022 Huang, Zhang, Li, Dammer, Hu, Xie, Tang, Li, Wang, Che, Wang and Ren.
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.3389/fnagi.2022.829573
• Title of Journal or Parent Work: FRONTIERS IN AGING NEUROSCIENCE
• Volume: 14
• Start Page: 829573
• End Page: 829573
• Grant/Funding Information: This work was supported by grants from the National Natural Science Foundation of China (81971068 and 81801045), Natural Science Foundation of Shanghai (19ZR1431500), and Shanghai “Rising Stars of Medical Talent” Youth Development Program-Outstanding Youth Medical Talents (2018).
• Keywords: cognitive decline; CSP-ALPHA; Neurosciences; CYSTEINE; Geriatrics & Gerontology; Neurosciences & Neurology; neurodegenerative disease; adult-onset neuronal ceroid lipofuscinosis; BINDING; cysteine string protein alpha; Life Sciences & Biomedicine; Science & Technology; lysosome; AGGREGATION
• Research Categories: Health Sciences, Pharmacology; Chemistry, Biochemistry

Abstract

Neuronal ceroid lipofuscinosis (NCL) is composed of a group of inherited neurodegenerative diseases, with the hallmark of lipofuscin deposit (a mixture of lipids and proteins with metal materials) inside the lysosomal lumen, which typically emits auto-fluorescence. Adult-onset NCL (ANCL) has been reported to be associated with a mutation in the DNAJC5 gene, including L115R, L116Δ, and the recently identified C124_C133dup mutation. In this study, we reported a novel C128Y mutation in a young Chinese female with ANCL, and this novel mutation caused abnormal palmitoylation and triggered lipofuscin deposits.