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Derivation, characterization, and neuronal differentiation of integration-free induced pluripotent stem cell lines from Parkinsons disease patients carrying SNCA, LRRK2, PARK2, and GBA mutations

ABSTRACT: Analysis of whole genome expression in control and patients with Parkinsons disease iPSC lines. The hypothesis tested in present study was that deficient GBA, SNCA, LRRK2 and PARKIN expression can be used for disease modeling by their affects on multiple pathways. These results provide information on relationship between PD genes and mitochondria related gene expression.

ORGANISM(S): Homo sapiens

PROVIDER: GSE78152 | GEO | 2016/02/23

SECONDARY ACCESSION(S): PRJNA312783

REPOSITORIES: GEO

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Derivation, characterization, and neuronal differentitation of integration-free induced pluripotent stem cell lines from Parkinsons disease patients carrying SNCA, LRRK2, PARK2, and GBA mutations

Project description:Analysis of whole genome expression in control and patients with Parkinsons disease iPSC lines. The hypothesis tested in present study was that deficient GBA, SNCA, LRRK2 and PARKIN expression can be used for disease modeling by their affects on multiple pathways. These results provide information on relationship between PD genes and mitochondria related gene expression. Total RNA obtained from patient iPSC line compare to control iPSC line

2016-02-23 | E-GEOD-78152 | biostudies-arrayexpress

Derivation, Characterization, and Neural Differentiation of Integration-Free Induced Pluripotent Stem Cell Lines from Parkinson's Disease Patients Carrying SNCA, LRRK2, PARK2, and GBA Mutations.

Project description:We report generation of induced pluripotent stem cell (iPSC) lines from ten Parkinson's disease (PD) patients carrying SNCA, PARK2, LRRK2, and GBA mutations, and one age-matched control. After validation of pluripotency, long-term genome stability, and integration-free reprogramming, eight of these lines (one of each SNCA, LRRK2 and GBA, four PARK2 lines, and the control) were differentiated into neural stem cells (NSC) and subsequently to dopaminergic cultures. We did not observe significant differences in the timeline of neural induction and NSC derivation between the patient and control line, nor amongst the patient lines, although we report considerable variability in the efficiency of dopaminergic differentiation among patient lines. We performed whole genome expression analyses of the lines at each stage of differentiation (fibroblast, iPSC, NSC, and dopaminergic culture) in an attempt to identify alterations by large-scale evaluation. While gene expression profiling clearly distinguished cells at different stages of differentiation, no mutation-specific clustering or difference was observed, though consistent changes in patient lines were detected in genes associated mitochondrial biology. We further examined gene expression in a stress model (MPTP-induced dopaminergic neuronal death) using two clones from the SNCA triplication line, and detected changes in genes associated with mitophagy. Our data suggested that even a well-characterized line of a monogenic disease may not be sufficient to determine the cause or mechanism of the disease, and highlights the need to use more focused strategies for large-scale data analysis.

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

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

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Gene expression data from LRRK2-WT and LRRK2-G2019S astrocytes

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2021-02-27 | GSE167704 | GEO

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

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GBA coastal samples

Project description:GBA coastal samples Raw sequence reads

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Deletion of Gba in neurons, but not microglia, causes neurodegeneration in a Gaucher mouse model

Project description:Gaucher disease, the most prevalent lysosomal storage disease, is caused by homozygous mutations at the GBA gene, which is responsible for encoding the enzyme glucocerebrosidase. Neuronopathic Gaucher disease is associated with microgliosis, astrogliosis, and neurodegeneration. However, the role that microglia, astrocytes, and neurons play in the disease remains to be determined. In the current study, we developed inducible, cell-type specific Gba KO mice to understand the individual impacts of Gba deficiencies on microglia and neurons. Gba was conditionally knocked out either exclusively in microglia or neurons, or throughout the body. These mouse models were developed using a tamoxifen-inducible Cre system, with tamoxifen administration commencing at weaning. Microglia-specific Gba KO mice showed no signs of disease. However, the neuron-specific Gba KO resulted in a shortened lifespan, severe weight loss, and ataxia. These mice also had significant neurodegeneration, microgliosis, and astrogliosis accompanied by the accumulation of glucosylceramide and glucosylsphingosine, recapitulating Gaucher disease-like symptoms. These surprising findings reveal that, unlike the neuron-specific Gba deficiency, microglia-specific Gba deficiency alone does not induce disease. The neuronal Gaucher disease mouse model, with a median survival of 16 weeks, may be useful for future studies of pathogenesis and the evaluation of therapies.

2024-10-02 | GSE247436 | GEO

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