Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease

IF 2.3 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

Biochemistry and Biophysics Reports Pub Date : 2025-03-14 DOI:10.1016/j.bbrep.2025.101979

Marya S. Sabir , Mahin S. Hossain , Laura Pollard , Marjan Huizing , William A. Gahl , Frances M. Platt , May Christine V. Malicdan

引用次数: 0

Abstract

Large population-based studies of Parkinson's disease (PD) have identified susceptibility genes, including SLC17A5. Biallelic mutations in SLC17A5, encoding the lysosomal sialic acid transporter sialin, cause the rare neurodegenerative disease, free sialic acid storage disorder (FSASD). To explore a potential biochemical link between FSASD and PD, we investigated ganglioside concentrations in a novel mouse model harboring the Slc17a5 p.Arg39Cys (p.R39C) variant. Our analysis revealed no significant alterations in ganglioside concentrations in heterozygous p.R39C mice, warranting further studies into other potential links between PD and sialin defects.

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Slc17a5杂合小鼠缺乏显著神经节苷脂改变：与fssd和帕金森病相关

基于大量人群的帕金森病（PD）研究已经确定了包括SLC17A5在内的易感基因。编码溶酶体唾液酸转运体唾液素的SLC17A5基因双等位基因突变可导致罕见的神经退行性疾病游离唾液酸储存障碍（fssd）。为了探索fssd和PD之间潜在的生化联系，我们研究了含有Slc17a5 p.Arg39Cys （p.R39C）变体的新型小鼠模型中的神经节苷脂浓度。我们的分析显示，杂合子p.R39C小鼠的神经节苷脂浓度没有显著变化，这为进一步研究PD和sialin缺陷之间的其他潜在联系提供了依据。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Biochemistry and Biophysics Reports Biochemistry, Genetics and Molecular Biology-Biophysics

CiteScore

4.60

自引率

0.00%

发文量

191

审稿时长

59 days

期刊介绍： Open access, online only, peer-reviewed international journal in the Life Sciences, established in 2014 Biochemistry and Biophysics Reports (BB Reports) publishes original research in all aspects of Biochemistry, Biophysics and related areas like Molecular and Cell Biology. BB Reports welcomes solid though more preliminary, descriptive and small scale results if they have the potential to stimulate and/or contribute to future research, leading to new insights or hypothesis. Primary criteria for acceptance is that the work is original, scientifically and technically sound and provides valuable knowledge to life sciences research. We strongly believe all results deserve to be published and documented for the advancement of science. BB Reports specifically appreciates receiving reports on: Negative results, Replication studies, Reanalysis of previous datasets.