title: Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression.
abstract: Friedreich's ataxia is an autosomal recessive neurodegenerative disease that is due to the loss of function of the frataxin protein. The molecular basis of this disease is still a matter of debate and treatments have so far focused on managing symptoms. Drugs that can increase the amount of frataxin protein offer a possible therapy for the disease. One such drug is recombinant human erythropoietin (rhu-EPO). Here, we report the effects of rhu-EPO on frataxin mRNA and protein in primary fibroblast cell cultures derived from Friedreich's ataxia patients. We observed a slight but significant increase in the amount of frataxin protein. Interestingly, we did not observe any increase in the messenger RNA expression at any of the times and doses tested, suggesting that the regulatory effects of rhu-EPO on the frataxin protein was at the post-translational level. These findings could help the evaluation of the treatment with erythropoietin as a potential therapeutic agent for Friedreich's ataxia.
authors.affiliation: Medical Genetics Unit, Department of Cellular and Molecular Biology, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy. fabio_h2o@hotmail.com
authors.forename: Fabio
authors.initials: F
authors.lastname: Acquaviva
authors.forename: Imma
authors.initials: I
authors.lastname: Castaldo
authors.forename: Alessandro
authors.initials: A
authors.lastname: Filla
authors.forename: Manuela
authors.initials: M
authors.lastname: Giacchetti
authors.forename: Daniele
authors.initials: D
authors.lastname: Marmolino
authors.forename: Antonella
authors.initials: A
authors.lastname: Monticelli
authors.forename: Michele
authors.initials: M
authors.lastname: Pinelli
authors.forename: Francesco
authors.initials: F
authors.lastname: Saccà
authors.forename: Sergio
authors.initials: S
authors.lastname: Cocozza
mesh_terms: D000328:Adult; D004921:Erythropoietin / Q000494:pharmacology*; D005260:Female; D005347:Fibroblasts / Q000502:physiology; D005621:Friedreich Ataxia / Q000235:genetics; D005786:Gene Expression Regulation / Q000187:drug effects*; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011499:Protein Processing, Post-Translational / Q000187:drug effects*; D012333:RNA, Messenger / Q000235:genetics*; D011994:Recombinant Proteins; D055815:Young Adult; D000096923:Frataxin
chemical_list: D004921:Erythropoietin; D033862:Iron-Binding Proteins; D012333:RNA, Messenger; D011994:Recombinant Proteins; D000096923:Frataxin