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Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

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Axonal Charcot-Marie-Tooth disease.

Michael E Shy¹, Agnes Patzkó

¹Wayne State University School of Medicine, Detroit, Michigan, USA.

Current Opinion in Neurology

|September 6, 2011

Summary

Genetic discoveries have identified over 10 genes causing axonal Charcot-Marie-Tooth disease (CMT), offering insights into neuronal degeneration mechanisms and potential therapies for this inherited neuropathy.

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Area of Science:

Genetics
Neuroscience
Molecular Biology

Background:

Charcot-Marie-Tooth disease (CMT) encompasses a group of inherited peripheral neuropathies.
Axonal forms of CMT are characterized by degeneration of the longest axons in the peripheral nervous system.

Purpose of the Study:

To identify the genetic underpinnings of dominantly and recessively inherited axonal Charcot-Marie-Tooth disease.
To review the biological mechanisms contributing to these neurological disorders.

Main Methods:

Review of genetic studies identifying causative genes for axonal CMT.
Analysis of protein expression patterns and functional roles of identified genes.
Examination of established cellular and animal models for studying disease mechanisms.

Main Results:

Over 10 genes responsible for axonal CMT have been discovered in the last decade.
Many identified genes encode ubiquitously expressed proteins, suggesting widespread cellular roles.
Clinical phenotypes are being characterized, and relevant disease models are under development.

Conclusions:

New genetic findings illuminate neuronal degeneration pathways relevant beyond axonal CMT.
Understanding genetic causes aids patients, families, and scientific research.
Insights pave the way for therapeutic strategies for axonal CMT and related motor neuron disorders.