The SMN2 gene contains sequences that regulate the level of inclusion of SMN exon7 in SMN mRNA, and some of these act in a negative manner. Antisense oligonucleotides to block the negative regulating protein binding to these sites can increase inclusion of SMN exon 7 and thus, the amount of SMN being produced.
Spinal muscular atrophy (SMA) is an inherited disease affecting the central nervous system, peripheral nervous system, and skeletal muscle. It is present primarily in infants and children but can also develop in adults. About 10,000 to 25,000 children and adults are living with the disease in the …