Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future
نویسندگان
چکیده
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 caused by a duplication on chromosome 17p11.2 leading an overexpression Peripheral Myelin Protein 22 (PMP22). PMP22 gene under tight regulation small changes in its expression influences myelination affect motor sensory functions. To date, treatment symptomatic classic pharmacological options have been disappointing. Here, we review past, present, future for CMT1A, with special emphasis highly promising potential PMP22-targeted interfering RNA antisense oligonucleotides.
منابع مشابه
Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report.
The 1.4Mb tandem-duplication in the PMP22 gene at 17p11.2 usually manifests as hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing-loss, moderate developmental delay, and gait disturbance. Hypertelorism and marked phenotypic variability within a single family has not been reported. In a single family, the PMP22 tandem-duplication manifested as short stature, sensor...
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Myelin insulates axons in the peripheral nervous system to allow rapid propagation of action potentials, and proper myelination requires the precise regulation of genes encoding myelin proteins, including PMP22. The correct gene dosage of PMP22 is critical; a duplication of PMP22 is the most common cause of the peripheral neuropathy Charcot-Marie-Tooth Disease (CMT) (classified as type 1A), whi...
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Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...
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ژورنال
عنوان ژورنال: Translational Research
سال: 2021
ISSN: ['1931-5244', '1878-1810']
DOI: https://doi.org/10.1016/j.trsl.2020.07.006