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

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.

• Authors: Qiang Huang, Yong-Fang Zhang, Lin-Jie Li, Eric B Dammer, Yong-Bo Hu, Xin-Yi Xie, Ran Tang, Jian-Ping Li, Jin-Tao Wang, Xiang-Qian Che, Gang Wang, Ru-Jing Ren
• Journal: Frontiers in aging neuroscience (Front Aging Neurosci) Vol. 14 Pg. 829573 ( 2022) ISSN: 1663-4365 [Print] Switzerland
• PMID: 35462699 (Publication Type: Journal Article)
• Copyright: Copyright © 2022 Huang, Zhang, Li, Dammer, Hu, Xie, Tang, Li, Wang, Che, Wang and Ren.