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Gene expression of brain cells from wild type and Gba flox/flox; Nestin-Cre mice

ABSTRACT: To investigate neuronopathic Gaucher disease brain cell gene expression, we established Gba flox/flox; Nestin-Cre mice and performed scRNA sequencing of whole brain cells from these and wild type mice. Unbiased clustering analysis revealed that most remarkable change between wild type and Gba flox/flox; Nestin-Cre mice was the appearance of an activated microglia cluster, which exclusively expressed Tnf. Our further study elucidated the mechanism by which activated microglia and TNF contribute to Gaucher disease pathology.

ORGANISM(S): Mus musculus

PROVIDER: GSE202929 | GEO | 2023/02/03

REPOSITORIES: GEO

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Gene expression of microglia from wild type, Gba flox/flox; Nestin-Cre, and Gba flox/flox; Nestin-Cre; Mincle-/- mice

Project description:To investigate the contribution of Mincle in neuronopathic Gaucher disease, we established Gba flox/flox; Nestin-Cre mice and crossed them with Mincle deficient mice. RNA sequencing of microglia from these mice revealed Axl, a phaogocytic receptor was upregulated in Gba flox/flox; Nestin-Cre mice. In addition, Tnf was upregulated in Gba flox/flox; Nestin-Cre mice in a Mincle-dependent manner. Our further study elucidated that Mincle, Axl and TNF are involved in the pathology of Gaucher disease.

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Brain pathology and cerebellar Purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease [microglia]

Project description:Gaucher disease (GD) is currently the focus of considerable attention due primarily to the association between the gene that causes GD (GBA) and Parkinson’s disease. Mouse models exist for the systemic (type 1) and for the acute neuronopathic forms (type 2) of GD. Here we report the generation of a mouse that phenotypically models chronic neuronopathic type 3 GD. Gba-/-;Gbatg mice, which contain a Gba transgene regulated by doxycycline, accumulate moderate levels of the offending substrate in GD, glucosylceramide, and live for up to 10 months, i.e. significantly longer than mice which model type 2 GD. Gba-/-;Gbatg mice display behavioral abnormalities at ~4 months, which deteriorate with age, along with significant neuropathology including loss of Purkinje neurons. Gene expression is altered in the brain and in isolated microglia, although the changes in gene expression are less extensive than in mice modeling type 2 disease. Finally, bone deformities are consistent with the Gba-/-;Gbatg mice being a genuine type 3 GD model. Together, the Gba-/-;Gbatg mice share pathological pathways with acute neuronopathic GD mice but also display differences that might help understand the distinct disease course and progression of type 2 and 3 patients.

2020-11-08 | GSE157991 | GEO

Brain pathology and cerebellar Purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease [whole brain]

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Elevated gpNMB in type 1 Gaucher disease patients

Project description:Gaucher disease (GD) is characterized by the presence of glucosylceramide-laden macrophages (Gaucher cells) as the result of deficiency in the lysosomal hydrolase glucocerebrosidase (GBA). Non-neuronopathic type 1 GD is effectively treated by infusions with macrophage-targeted recombinant glucocerebrosidase. We here report how LC-MSE analysis of the proteome of laser-dissected splenic Gaucher cells revealed high expression of several proteins amongst which was gpNMB. This was confirmed by histochemistry and RNA quantification. Macrophages produce gpNMB as membrane protein but release soluble fragments. In plasma of symptomatic Gaucher patients (n=59) soluble gpNMB was next found to be on average 25-fold increased prior to treatment, without overlap with control values, (control mean: 20 ng/ml; range 11-34 ng/ml vs. GD mean: 495 ng/ml; range: 137-1283 ng/ml).

2016-09-27 | PXD001598 | Pride

Comparative transcriptome analysis in monocyte-derived macrophages of asymptomatic GBA mutation carriers and patients with GBA-associated Parkinson’s disease

Project description:We compared transcriptome of monocyte-derived macrophages of 5 patients with GBA-PD (4 L444P/N, 1 N370S/N) and 4 asymptomatic GBA mutation carriers (GBA-carriers) (3 L444P/N, 1 N370S/N) and 4 controls. We also conducted comparative transcriptome analysis for L444P/N only GBA-PD patients and GBA-carriers. Revealed deregulated genes in GBA-PD independently of GBA mutations (L444P or N370S) were involved in immune response, neuronal function. We found upregulated pathway associated with zinc metabolism in L444P/N GBA-PD patients. The potential important role of DUSP1 in the pathogenesis of GBA-PD was suggested.

2021-10-12 | E-MTAB-11029 | biostudies-arrayexpress

Comparative transcriptome analysis in monocyte-derived macrophages of asymptomatic GBA mutation carriers and patients with GBA-associated Parkinson’s disease

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RNAseq of malignant peripheral nerve sheath tumors from Nf1 flox/flox Arf flox/flox PostnCre+ mice

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2023-12-12 | GSE232707 | GEO

Global Gene Expression Profiles in Cultured Skin Fibroblasts Derived from Patients with Gaucher Disease

Project description:This work presents the discovery of genes that are dysregulated in patients with Type I and Type III Gaucher Disease. It provides insight into the unique pathogenesis of these phenotypes, improved diagnostic accuracy and potential novel therapies for these patients. Control and patient fibroblast cultures were established from full-thickness, skin biopsies obtained under a protocol approved by the IRB of the National Institute of Neurological Disorders and Stroke. Patient cultures were homoallelic for either the N370S mutation (non-neuronopathic, Gaucher Disease Type I, n=5), the L444P mutation (neuronopathic, Gaucher Disease Type III, n=5), or Wild-Type (Control, n=4).

2010-06-08 | E-GEOD-21899 | biostudies-arrayexpress

Gene expression profiling of Jun -/- and Jun +/+ facial motor neurons

Project description:To determine target genes, biological functions of Jun and mechanisms of gene regulation by Jun in regenerating neurons, gene expression profiling was carried out of axotomized and uninjured facial motor neurons in floxed c-Jun mice crossed with nestin-cre mice. Nestin-promoter-driven Cre ensures deletion of Jun in the central nervous system including facial motor neurons. KO animals were Jun Flox/Fox Cre+, while WT animals were Jun Flox/Flox, Cre-.

2021-11-17 | GSE162977 | GEO

Adiponectin-cre FTO flox/flox and FTO flox/flox mouse white fat tissues

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2016-07-03 | E-GEOD-65098 | biostudies-arrayexpress

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