THE CHALLENGE OF SPINAL MUSCULAR ATROPHY AND THE NEW THERAPEUTIC DATA

Abstract

Spinal Muscular Atrophy (SMA) is an inherited genetic disorder that results in neurodegeneration and muscle atrophy. It is the leading genetic cause of death among infants. Pathogenesis of SMA is linked to the deletion of the Survival Motor Neuron 1 (SMN1) gene, causing non-sufficient expression of Survival Motor Neuron (SMN) protein. The human chromosome contains an almost identical copy of the SMN1 gene, named SMN2, transcription of which results mostly in a non-functional protein called SMNΔ7. Research on an effective therapeutic approach of the disease has been underway and only recently there have been major breakthroughs. This review presents the pathogenetic mechanism of SMA and focuses on new treatments that show a lot of promise, including Nusinersen and scAAV9, two drugs that only recently gained approval by the FDA.