Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

Christina Brahe, Tiziana Vitali, Francesco D. Tiziano, Carla Angelozzi, Anna Maria Pinto, Federica Borgo, Umberto Moscato, Enrico Bertini, Eugenio Mercuri, Giovanni Neri

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)256-259
Number of pages4
JournalEuropean Journal of Human Genetics
Volume13
Issue number2
DOIs
Publication statusPublished - Feb 2005

Keywords

  • Phenylbutyrate
  • Spinal muscular atrophy
  • Survival of motor neuron gene

ASJC Scopus subject areas

  • Genetics(clinical)

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