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Article Dans Une Revue American Journal of Translational Research Année : 2020

Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future

Suzan Boutary
Andoni Echaniz-Laguna
David Adams
Julien Loisel-Duwattez
Michael Schumacher
  • Fonction : Auteur

Résumé

Charcot-Marie-Tooth (CMT) disease is the most frequent inherited neuropathy, affecting 1/1500 to 1/10000. CMT1A represents 60%-70% of all CMT and is caused by a duplication on chromosome 17p11.2 leading to an overexpression of the Peripheral Myelin Protein 22 (PMP22). PMP22 gene is under tight regulation and small changes in its expression influences myelination and affect motor and sensory functions. To date, CMT1A treatment is symptomatic and classic pharmacological options have been disappointing. Here, we review the past, present, and future treatment options for CMT1A, with a special emphasis on the highly promising potential of PMP22-targeted small interfering RNA and antisense oligonucleotides.
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Dates et versions

hal-02988647 , version 1 (17-11-2020)

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Suzan Boutary, Andoni Echaniz-Laguna, David Adams, Julien Loisel-Duwattez, Michael Schumacher, et al.. Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future. American Journal of Translational Research, 2020, ⟨10.1016/j.trsl.2020.07.006⟩. ⟨hal-02988647⟩
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