Key result
Recent advances in translational research on spinal muscular atrophy therapeutics have opened new possibilities for intervention, targeting pathways like SMN gene expression and gene therapy.
This review highlights past and current translational research on therapeutics for spinal muscular atrophy, a leading genetic cause of infant mortality.
PURPOSE OF REVIEW: Spinal muscular atrophy (SMA) is a pediatric neuromuscular condition characterized by progressive proximal muscle weakness. It is one of the most common genetic causes of infant mortality across different races and is caused by mutation of the survival of motor neuron 1 (SMN1) gene on chromosome 5q13. RECENT FINDINGS: To date, there have been many therapeutics developments for SMA targeting various potential pathways such as increasing SMN gene expression, enhancing SMN2 exon 7 inclusion, neuroprotection, cell replacement, and gene therapy. SUMMARY: Although SMA remains an incurable disease to date, recent advances in the field of basic and translational research have enhanced our understanding of the pathogenesis of the disease and opened new possibilities for therapeutic intervention. This article reviews and highlights past and current translational research on SMA therapeutics.
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Singh et al. (2013) conducted a review in Spinal muscular atrophy (SMA). SMA therapeutics was evaluated. Recent advances in translational research on spinal muscular atrophy therapeutics have opened new possibilities for intervention, targeting pathways like SMN gene expression and gene therapy.
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