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

Journal: European journal of human genetics : EJHG 2005;13(2):256-9

PMID: 15523494

Full Text on Nature Publishing Group View on PubMed

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.

Address: Istituto di Genetica Medica, Università Cattolica S Cuore, Largo F Vito, 1, 00168 Rome, Italy. [email protected]

DOI: 10.1038/sj.ejhg.5201320

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MeSH Terms: Administration, Oral, Adolescent, Adult, Child, Child, Preschool, Cyclic AMP Response Element-Binding Protein, Female, Gene Expression, Humans, Leukocytes, Male, Muscular Atrophy, Nerve Tissue Proteins, Phenylbutyrates, Pilot Projects, RNA, Messenger, RNA-Binding Proteins, SMN Complex Proteins