title: Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients.
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.
authors.affiliation: Istituto di Genetica Medica, Università Cattolica S Cuore, Largo F Vito, 1, 00168 Rome, Italy. cbrahe@rm.unicatt.it
authors.forename: Christina
authors.initials: C
authors.lastname: Brahe
authors.forename: Tiziana
authors.initials: T
authors.lastname: Vitali
authors.forename: Francesco D
authors.initials: FD
authors.lastname: Tiziano
authors.forename: Carla
authors.initials: C
authors.lastname: Angelozzi
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Pinto
authors.forename: Federica
authors.initials: F
authors.lastname: Borgo
authors.forename: Umberto
authors.initials: U
authors.lastname: Moscato
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
mesh_terms: D000284:Administration, Oral; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D017362:Cyclic AMP Response Element-Binding Protein / Q000096:biosynthesis* / Q000235:genetics; D005260:Female; D015870:Gene Expression / Q000187:drug effects*; D006801:Humans; D007962:Leukocytes / Q000378:metabolism*; D008297:Male; D009133:Muscular Atrophy / Q000188:drug therapy / Q000378:metabolism*; D009419:Nerve Tissue Proteins / Q000096:biosynthesis* / Q000235:genetics; D010654:Phenylbutyrates / Q000008:administration & dosage*; D010865:Pilot Projects; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics; D016601:RNA-Binding Proteins / Q000096:biosynthesis* / Q000235:genetics; D055532:SMN Complex Proteins
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D010654:Phenylbutyrates; D012333:RNA, Messenger; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins