Adult-Onset Neuronal Ceroid Lipofuscinosis With a Novel DNAJC5 Mutation Exhibits Aberrant Protein Palmitoylation.
Adult-Onset Neuronal Ceroid Lipofuscinosis With a Novel DNAJC5 Mutation Exhibits Aberrant Protein Palmitoylation.
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DOI：
10.3389/fnagi.2022.829573
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发表时间：
2022
影响因子：
4.8
通讯作者：
中科院分区：
文献类型：
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神经元样脂褐质病（NCL）是一组遗传性神经退行性疾病，其特征是溶酶体腔内脂褐质沉积（脂质和蛋白质与金属物质的混合物），通常会发出自身荧光。据报道，成人发病的NCL （ANCL）与DNAJC5基因突变有关，包括L115R、L116Δ和最近发现的C124_C133dup突变。在这项研究中，我们报道了一种新的C128Y突变在一名年轻的中国女性ANCL患者中，这种新的突变导致异常棕榈酰化并引发脂褐素沉积。
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.