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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.

Subject(s)

Cyclic AMP Response Element-Binding Protein/biosynthesis , Gene Expression/drug effects , Leukocytes/metabolism , Muscular Atrophy/metabolism , Nerve Tissue Proteins/biosynthesis , Phenylbutyrates/administration & dosage , RNA-Binding Proteins/biosynthesis , Administration, Oral , Adolescent , Adult , Child , Child, Preschool , Cyclic AMP Response Element-Binding Protein/genetics , Female , Humans , Male , Muscular Atrophy/drug therapy , Nerve Tissue Proteins/genetics , Pilot Projects , RNA, Messenger/biosynthesis , RNA, Messenger/genetics , RNA-Binding Proteins/genetics , SMN Complex Proteins

ABSTRACT

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