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SMN2 Gene Based Treatments In Spinal Muscular Atrophy- A Review Of Recent Advancements

Abstract

Barun Kumar*1, Ravi Prakash2

Spinal muscle atrophy (SMA) is a neurodegenerative disease with autosomal recessive inheritance which is pathologically characterized by degeneration of α motor neurons from the anterior horn of the spinal cord resulting in muscle weakness, muscle atrophy involving mainly muscles of the trunk. SMA is commonly divided into types 1 through 4. In humans, SMN genes, (SMN1 and SMN2) are located on chromosome 5 in close proximity to each other. It has been assumed that the SMN2 locus is derived from a (evolutionarily) recent duplication event of a genomic region spanning 500 kb. The role of SMN2 gene as a phenotypic modifier of SMA has been studied in great details recently. Each patient affected with SMA retains at least oneSMN2 copy. From this perspective, it can be said that SMA arises due to the inability of SMN2 gene to fully compensate for the lack of functional SMN protein resulting from the mutation of SMN1. In this review article, we will focus on three of the treatment strategies using SMN2 gene which have been used as treatment strategies by various techniques. These strategies are: i) inducing the expression of SMN2, ii) modulating splicing of SMN2 derived transcript, and iii) stabilizing the full length SMN2 derived mRNA and/or protein.

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