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.
Publication types
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Clinical Trial
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Research Support, Non-U.S. Gov't
MeSH terms
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Administration, Oral
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Adolescent
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Adult
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Child
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Child, Preschool
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Cyclic AMP Response Element-Binding Protein / biosynthesis*
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Cyclic AMP Response Element-Binding Protein / genetics
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Female
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Gene Expression / drug effects*
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Humans
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Leukocytes / metabolism*
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Male
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Muscular Atrophy / drug therapy
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Muscular Atrophy / metabolism*
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Nerve Tissue Proteins / biosynthesis*
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Nerve Tissue Proteins / genetics
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Phenylbutyrates / administration & dosage*
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Pilot Projects
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RNA, Messenger / biosynthesis
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RNA, Messenger / genetics
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RNA-Binding Proteins / biosynthesis*
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RNA-Binding Proteins / genetics
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SMN Complex Proteins
Substances
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Cyclic AMP Response Element-Binding Protein
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Nerve Tissue Proteins
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Phenylbutyrates
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RNA, Messenger
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RNA-Binding Proteins
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SMN Complex Proteins