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,Charbel Massaad,Liliane Massaad-Massade

Translational Research（2021）

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摘要

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. y

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关键词

Peripheral Nervous System,Charcot-Marie-Tooth,Human Peripheral Myelin Protein 22 gene (PMP22) protein,Rodent Peripheral Myelin Protein 22 gene,Human Myelin Protein Zero,and Myelin Basic Protein,Guillain-Barré syndrome,Chronic Inflammatory Demyelinating Polyradiculo-Neuropathy,Charcot-Marie-tooth 1A,Motor Nerve Conduction Velocity,Compound Muscle Action Potential,Hereditary Neuropathy with Liability to Pressure Palsies,L1 cell adhesion molecule,and nerve growth factor receptor,Neurotrophin-3,Adeno-Associated Viruses,Charcot-Marie-Tooth Neuropathy Score,Overall Neuropathy Limitations Scale,RNA interference,Small interfering RNA,Hereditary Transthyretin Amyloidosis,Transthyretin,Antisense Oligonucleotides,Heat Shock Proteins

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