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Reduced cerebral vascularization in experimental neuronopathic Gaucher disease
Nicholas Jc Smith1,2,3, Maria Fuller2,4, Jennifer T Saville4
1Department of Neurology and Clinical Neurophysiology, Women's and Children's Health Network, Adelaide, South Australia, Australia.
The Journal of Pathology
|October 6, 2017
Summary
Gaucher disease impairs brain blood vessel growth due to increased β-glucosylsphingosine, affecting endothelial cells. This finding suggests a new therapeutic target for neuronopathic Gaucher disease.
Area of Science:
- Neuropathology
- Vascular Biology
- Lysosomal Storage Diseases
Background:
- Gaucher disease, a glycosphingolipidosis, causes neurological issues due to acid β-glucocerebrosidase deficiency.
- Accumulation of substrates like β-glucosylsphingosine contributes to end-organ dysfunction, but mechanisms remain unclear.
Purpose of the Study:
- Investigate the impact of Gaucher disease on cerebral microvasculature.
- Analyze the cerebral glycosphingolipidome in a disease model.
- Explore the role of β-glucosylsphingosine in endothelial cell function.
Main Methods:
- Utilized a murine model of Gaucher disease.
- Performed detailed analysis of the cerebral glycosphingolipidome.
- Conducted in vitro studies on endothelial cell cytokinesis.
Main Results:
- Observed significantly reduced cerebral microvascular density in the disease model.
- Identified marked elevations of β-glucosylsphingosine in the brain.
- Demonstrated concentration-dependent impairment of endothelial cytokinesis by β-glucosylsphingosine.
Conclusions:
- Pathogenic disruption of cerebral angiogenesis is a potential end-organ effect in Gaucher disease.
- Elevated β-glucosylsphingosine impairs endothelial cell division.
- These findings suggest therapeutic potential for modulating cerebral angiogenesis in neuronopathic Gaucher disease.
