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A Simple Approach to Induce Experimental Autoimmune Neuritis in C57BL/6 Mice for Functional and Neuropathological Assessments
Published on: November 9, 2017
Animal models of inherited neuropathies
Gerd Meyer Zu Hörste1, Klaus-Armin Nave
1Max-Planck-Institute of Experimental Medicine, Göttingen, Germany.
Purpose Of Review:
Mutations in a number of genes have been associated with inherited neuropathies (Charcot-Marie-Tooth or CMT disease). This review highlights how animal models of demyelinating CMT have improved our understanding of disease mechanisms. Transgenic CMT models also allow therapies to be developed in a preclinical setting.
Recent Findings:
Rodent models for the most common subtypes of human CMT disease are now available, and two mouse mutants modeling the rare CMT4B subform have lately extended this repertoire. In a peripheral myelin protein 22 kDa (Pmp22) transgenic rat model of CMT1A, administration of a progesterone receptor antagonist reduced Pmp22 overexpression, axon loss and clinical impairments. Dietary ascorbic acid prevented dysmyelination and premature death in a Pmp22 transgenic mouse line. Neurotrophin-3 promoted small fiber remyelination in CMT1A xenografts and sensory functions in CMT1A patients. Gene expression profiling in rodent models of CMT may identify further therapeutical targets. While original classifications distinguish the demyelinating and axonal forms of CMT, recent findings emphasize that axon loss is a common feature, possibly caused by Schwann cell defects rather than demyelination per se. This supports our model that myelination and long-term axonal support are distinct functions of all myelinating glial cells.
Summary:
Animal models have opened up new perspectives on the pathomechanisms and possible treatment strategies of inherited neuropathies.
Insights
Animal models have advanced the understanding of inherited neuropathies like Charcot-Marie-Tooth (CMT) disease. These models are crucial for developing and testing new therapies for CMT, offering hope for patients.
Area of Science:
- Neuroscience
- Genetics
- Animal Models
Background:
- Inherited neuropathies, such as Charcot-Marie-Tooth (CMT) disease, are linked to genetic mutations.
- Understanding disease mechanisms and developing treatments have been challenging.
Purpose of the Study:
- To review the role of animal models in understanding demyelinating Charcot-Marie-Tooth (CMT) disease.
- To highlight how these models aid in preclinical therapy development.
Main Methods:
- Utilizing rodent models for common and rare CMT subtypes (e.g., CMT1A, CMT4B).
- Investigating therapeutic interventions in transgenic models, including drug administration and dietary supplements.
- Employing gene expression profiling to identify therapeutic targets.
Main Results:
- Transgenic rat models of CMT1A showed reduced Pmp22 overexpression and axon loss with a progesterone receptor antagonist.
- Dietary ascorbic acid improved outcomes in a Pmp22 transgenic mouse model.
- Neurotrophin-3 promoted remyelination and improved sensory function.
- Axon loss is a common feature in CMT, potentially due to Schwann cell defects.
Conclusions:
- Animal models provide critical insights into the pathomechanisms of inherited neuropathies.
- These models are instrumental in advancing potential treatment strategies for CMT disease.
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