title: Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease.
abstract: 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.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale UMR491, IPHM, Faculté de Médecine de la Timone, 27 Bd. J. Moulin, 13385 Marseille Cedex 5, France.
authors.forename: Edith
authors.initials: E
authors.lastname: Passage
authors.forename: Jean Chrétien
authors.initials: JC
authors.lastname: Norreel
authors.forename: Pauline
authors.initials: P
authors.lastname: Noack-Fraissignes
authors.forename: Véronique
authors.initials: V
authors.lastname: Sanguedolce
authors.forename: Josette
authors.initials: J
authors.lastname: Pizant
authors.forename: Xavier
authors.initials: X
authors.lastname: Thirion
authors.forename: Andrée
authors.initials: A
authors.lastname: Robaglia-Schlupp
authors.forename: Jean François
authors.initials: JF
authors.lastname: Pellissier
authors.forename: Michel
authors.initials: M
authors.lastname: Fontés
mesh_terms: D000818:Animals; D001205:Ascorbic Acid / Q000494:pharmacology / Q000627:therapeutic use*; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000188:drug therapy* / Q000235:genetics / Q000503:physiopathology; D017931:DNA Primers; D005260:Female; D005786:Gene Expression Regulation / Q000187:drug effects; D008297:Male; D051379:Mice; D009185:Myelin Proteins / Q000235:genetics; D010641:Phenotype; D012584:Sciatic Nerve / Q000187:drug effects / Q000503:physiopathology
chemical_list: D017931:DNA Primers; D009185:Myelin Proteins; C489545:Pmp22 protein, mouse; D001205:Ascorbic Acid