Abstract
Spinal muscular atrophy (SMA) is caused by insufficient levels of survival motor neuron (SMN) protein. Recently, we found that sodium 4-phenylbutyrate (PB), a well-tolerated FDA approved drug, enhances SMN gene expression in vitro. We provide here the first evidence that oral administration of PB (triButyrate®) significantly increases SMN expression in leukocytes of SMA patients. This finding provides a strong rationale to further investigate the effects of PB as also supported by preliminary clinical data.
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Acknowledgements
We thank the patients and families for their kind cooperation and are grateful to Valentina Leo for her help in taking the blood samples. We also thank Fyrklövern Scandinavia AB, Sweden, for providing the drug triButyrate®. This study was supported by the Associations Families of SMA USA, Families of SMA Italy, ASAMSI, and by Telethon (Grant GGP030109).
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Brahe, C., Vitali, T., Tiziano, F. et al. Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet 13, 256–259 (2005). https://doi.org/10.1038/sj.ejhg.5201320
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DOI: https://doi.org/10.1038/sj.ejhg.5201320
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