Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A
Michael E. Shy
Michael E. Shy
Published January 2, 2018; First published December 4, 2017
Citation Information: J Clin Invest. 2018;128(1):110-112. https://doi.org/10.1172/JCI98617.
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Category: Commentary

Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A

Abstract

Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common heritable peripheral neuropathy and results from a duplication on chromosome 17 that results in an extra copy and increased dosage of peripheral myelin protein 22 (PMP22). Zhao et al., in this issue of the JCI, successfully utilized antisense oligonucleotides (ASOs) to reduce PMP22 and ameliorated neuropathy in both mouse and rat models of CMT1A. These data confirm that strategies to reduce PMP22 have potential as effective therapeutic approaches for CMT1A and lay the groundwork for clinical trials in humans afflicted with this chronic, debilitating neurodegenerative disease.

Authors

Michael E. Shy

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Figure 1

ASO therapy for patients with CMT1A causes demyelination that over time leads to secondary axonal degeneration and ff accumulation in the muscle.

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ASO therapy for patients with CMT1A causes demyelination that over time ...
ASO binding to PMP22 mRNA may alleviate demyelination, but may not reduce axonal degeneration and ff accumulation in muscle that have already occurred, supporting the use of ASO as early as feasible to minimize these secondary complications of CMT1A.