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Cell Type-specific Gene Expression Profiling in the Mouse Liver
Published on: September 17, 2019
Global gene expression profile progression in Gaucher disease mouse models
You-Hai Xu1, Li Jia, Brian Quinn
1The Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA. greg.grabowski@cchmc.org
BMC Genomics
|January 13, 2011
Summary
Gaucher disease involves glucosylceramide buildup due to faulty glucocerebrosidase. Gene expression changes in mutant mice reveal immune responses and inflammatory pathways are key to Gaucher disease progression.
Area of Science:
- Biochemistry
- Genetics
- Immunology
Background:
- Gaucher disease stems from deficient glucocerebrosidase, leading to glucosylceramide accumulation.
- The precise mechanisms of Gaucher cells in visceral organs and their dysfunction remain unclear.
Purpose of the Study:
- To investigate the pathogenic pathways in Gaucher disease.
- To analyze gene expression changes in response to Gba1 mutations.
Main Methods:
- Developmental global gene expression analyses in distinct Gba1 point-mutated mice.
- Time course analyses of INFγ and IL-4 regulated cytokine/mediator networks in lung and liver tissues.
Main Results:
- Altered expression patterns observed in 0.9-3% of genes, particularly macrophage activation and immune response genes.
- Tissue-specific profiles of INFγ-regulated pro-inflammatory and IL-4-regulated anti-inflammatory networks were identified in mutant mice.
- Lipid-storage macrophages demonstrated functional activity, not inertness.
Conclusions:
- Direct correlations found between tissue glucosylceramide levels and gene expression alterations.
- IFNγ and IL-4 networks are implicated in the differential progression of Gaucher disease.
- Findings offer insights into Gaucher disease course and pathophysiology.
