Recombinant Human Erythropoietin Increases Frataxin Protein Expression Without Increasing mRNA Expression (original) (raw)

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.

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Acknowledgements

This work was supported in part by a grant from Friedreich’s Ataxia Research Alliance (FARA, USA). We would like to thank Leeanne McGurk for critical reading of this manuscript.

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Authors and Affiliations

  1. Medical Genetics Unit, Department of Cellular and Molecular Biology, University of Naples “Federico II”, Via Pansini 5, 80131, Naples, Italy
    Fabio Acquaviva, Imma Castaldo, Manuela Giacchetti, Daniele Marmolino, Antonella Monticelli, Michele Pinelli & Sergio Cocozza
  2. Department of Neurological Sciences, University of Naples “Federico II”, Via Pansini 5, 80131, Naples, Italy
    Alessandro Filla & Francesco Saccà

Authors

  1. Fabio Acquaviva
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  2. Imma Castaldo
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  3. Alessandro Filla
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  4. Manuela Giacchetti
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  5. Daniele Marmolino
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  6. Antonella Monticelli
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  7. Michele Pinelli
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  8. Francesco Saccà
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  9. Sergio Cocozza
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Correspondence toFabio Acquaviva.

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Acquaviva, F., Castaldo, I., Filla, A. et al. Recombinant Human Erythropoietin Increases Frataxin Protein Expression Without Increasing mRNA Expression.Cerebellum 7, 360–365 (2008). https://doi.org/10.1007/s12311-008-0036-x

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