AI Article Synopsis
- Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy, affecting between 1 in 1,500 and 1 in 10,000 people, with CMT1A accounting for 60%-70% of cases.
- CMT1A is caused by a duplication on chromosome 17p11.2, leading to overproduction of the Peripheral Myelin Protein 22 (PMP22), which is crucial for proper nerve myelination.
- Current treatments for CMT1A are mainly symptomatic and have had limited success, but new approaches focusing on PMP22-targeted small interfering RNA and antisense oligonucleotides show promising potential for future therapy.
Article Abstract
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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| http://dx.doi.org/10.1016/j.trsl.2020.07.006 | DOI Listing |
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