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Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice.
L G Rodrigues1, M J Ferraz, D Rodrigues
1Lysosome and Peroxisome Biology Unit, Instituto de Biologia Molecular e Celular, Porto, Portugal. lorena@ibmc.up.pt
Neurobiology of Disease
|October 14, 2008
Summary
Fabry disease mouse models show peripheral nervous system Gb3 accumulation and sensorimotor deficits, including hypoalgesia. These findings highlight nerve fiber alterations and functional changes relevant to Fabry disease neuropathic pain.
Area of Science:
- Neuroscience
- Genetics
- Rare Diseases
Background:
- Fabry disease is a rare X-linked disorder caused by alpha-galactosidase gene mutations.
- Enzyme deficiency leads to glycosphingolipid accumulation, affecting vascular endothelial cells.
- Neuropathic pain is a common clinical manifestation in Fabry patients.
Purpose of the Study:
- To investigate the impact of alpha-galactosidase A deficiency on sensorimotor function.
- To examine peripheral nervous system alterations in a Fabry disease mouse model.
- To correlate Gb3 accumulation with neurological and functional deficits.
Main Methods:
- Sensorimotor assessments including locomotor activity and hot-plate tests in Fabry mice.
- Histological analysis of sciatic nerve cyto-architecture.
- Evaluation of nerve fiber density (myelinated and non-myelinated) and nerve conduction velocity.
Main Results:
- Fabry mice exhibited reduced locomotor activity and warm hypoalgesia.
- Histology revealed increased sciatic nerve cross-sectional area and decreased non-myelinated fiber density.
- A trend for decreased small myelinated fibers was observed, with preservation of large myelinated fibers and nerve conduction velocity.
Conclusions:
- Fabry knockout mice accumulate Gb3 in the peripheral nervous system.
- These mice display sensorimotor dysfunction and hypoalgesia, mirroring human Fabry disease.
- The study demonstrates peripheral nerve alterations without impaired motor nerve conduction.
