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scRNA seq analysis on immune cells isolated from nGD mice brain

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We observed significant changes in gene expression between Wt and nGD brain. nGD brains are highly enriched for immune infiltrates, both microglia and immune infiltrates are activated in nGD brains. Through scRNA seq we identified that, microglia specific Gba deletion lead to higher activation and expression of DAM signature genes compared to control mice. The aim of the study is to identify immune microenvironment of of GD associated neuronopathy using single cell RNAseq technology. We developed mouse models that lack Gba gene in individual cell types with in the brain and evaluated gene expression changes using 10X scRNA seq.

我们观察到野生型(wild type, Wt)与nGD脑组织之间存在显著的基因表达差异。nGD脑组织中免疫浸润细胞丰度极高,小胶质细胞与免疫浸润细胞均处于激活状态。通过单细胞RNA测序(single-cell RNA sequencing, scRNA seq),我们发现相较于对照小鼠,小胶质细胞特异性Gba基因缺失会导致更高水平的细胞激活以及疾病相关小胶质细胞(disease-associated microglia, DAM)特征基因的表达。本研究旨在利用单细胞RNA测序技术,明确与戈谢病(Gaucher disease, GD)相关的神经病变的免疫微环境。我们构建了脑内特定细胞类型缺失Gba基因的小鼠模型,并通过10×单细胞RNA测序(10X scRNA seq)评估了其基因表达变化。

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