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

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Published on: January 7, 2019

Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease.

Jessica Medina¹, Adriana Rebelo¹, Matt C Danzi¹

¹Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

Brain : a Journal of Neurology

|July 15, 2024

Summary

Antisense oligonucleotides offer a promising genetic therapy for Charcot-Marie-Tooth type 2E (CMT2E) by reducing axonal degeneration biomarkers. This approach targets the underlying genetic cause of this rare inherited neuropathy.

Keywords:

Charcot–Marie–Tooth disease antisense oligonucleotide axonal degeneration induced pluripotent stem cell therapeutic

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Published on: May 11, 2018

Area of Science:

Genetics
Neuroscience
Molecular Biology

Background:

Charcot-Marie-Tooth (CMT) disease is a prevalent group of inherited neuropathies with diverse genetic causes.
Axonal forms (CMT2) result from dominant mutations leading to motor neuron axon degeneration.
Antisense oligonucleotide therapeutics show potential for neurodegenerative disorders.

Purpose of the Study:

To investigate pathomechanistic changes in CMT2E caused by a specific NEFL gene mutation (p.N98S).
To evaluate the therapeutic potential of antisense oligonucleotides (ASOs) for CMT2E.
To identify and validate biomarkers for peripheral nervous system axonal degeneration.

Main Methods:

Utilized patient-derived induced pluripotent stem cell-induced motor neurons modeling CMT2E.
Applied an ASO treatment strategy targeting a heterozygous gain-of-function variant in the NEFL gene.
Assessed established and novel biomarkers of axonal degeneration in motor neurons.

Main Results:

The ASO treatment significantly reduced key biomarkers of axonal degeneration in the CMT2E model.
Demonstrated a decrease in molecular phenotypes associated with the p.N98S variant.
Presented the first evidence of a clinically viable genetic therapeutic for CMT2E.

Conclusions:

ASO therapy effectively targets the molecular pathology of CMT2E.
This strategy offers a potential precision medicine approach for gain-of-function inherited disorders.
This study establishes a foundation for developing genetic therapies for rare inherited neuropathies.