Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease
摘要：
Charcot-Marie-Tooth disease (CMT) is the most common hereditary peripheral neuropathy, affecting 1 in 2,500 people. The only treatment currently available is rehabilitation or corrective surgery. The most frequent form of the disease, CMT-1A, involves abnormal myelination of the peripheral nerves. Here we used a mouse model of CMT-1A to test the ability of ascorbic acid, a known promoter of myelination, to correct the CMT-1A phenotype. Ascorbic acid treatment resulted in substantial amelioration of the CMT-1A phenotype, and reduced the expression of PMP22 to a level below what is necessary to induce the disease phenotype. As ascorbic acid has already been approved by the FDA for other clinical indications, it offers an immediate therapeutic possibility for patients with the disease.
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关键词：
Animals Mice Sciatic Nerve Charcot-Marie-Tooth Disease Ascorbic Acid DNA Primers Myelin Proteins Base Sequence Phenotype Gene Expression Regulation
DOI：
10.1038/nm1023
被引量：
年份：
2004
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