杂合小鼠中神经节苷脂无显著变化：与FSASD和帕金森病的相关性。
Lack of significant ganglioside changes in heterozygous mice: Relevance to FSASD and Parkinson's disease.
作者信息
Sabir Marya S, Hossain Mahin S, Pollard Laura, Huizing Marjan, Gahl William A, Platt Frances M, Malicdan May Christine V
机构信息
UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
NIH Oxford-Cambridge Scholars Program, University of Oxford, Oxford, UK.
出版信息
Biochem Biophys Rep. 2025 Mar 14;42:101979. doi: 10.1016/j.bbrep.2025.101979. eCollection 2025 Jun.
Large population-based studies of Parkinson's disease (PD) have identified susceptibility genes, including . Biallelic mutations in , 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 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.
基于大规模人群的帕金森病（PD）研究已经确定了一些易感基因，其中包括……编码溶酶体唾液酸转运体唾液酸蛋白的……双等位基因突变会导致罕见的神经退行性疾病——游离唾液酸贮积症（FSASD）。为了探究FSASD与PD之间潜在的生化联系，我们在一种携带p.Arg39Cys（p.R39C）变体的新型小鼠模型中研究了神经节苷脂浓度。我们的分析显示，杂合p.R39C小鼠的神经节苷脂浓度没有显著变化，这就需要进一步研究PD与唾液酸蛋白缺陷之间的其他潜在联系。
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