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SMN2Survival of Motor Neuron 2
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Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am J Med Genet A 2004;130A: 307-10.
Their theory is that if they can somehow "turn-up" the SMN2's ability to produce more than just 10% of the SMN protein, then kids would be able to survive, possibly reversing the atrophy and loss of motor function.
Because of the alternative splicing, SMN2 does not compensate for the homozygous loss of SMN1.
Moreover, small deletions or point mutation that cause gene conversion from SMN1 to SMN2 have been found in patients in whom SMN1 was present (8).
Nusinersen, the first drug to be approved for SMA, is an antisense oligonucleotide which leads to increased expression of more full-length and functional SMN protein by functionally converting the SMN2 gene into the SMN1 gene.
Spinraza alters the splicing of SMN2 pre-mRNA in order to increase production of full-length SMN protein.
[2] Telomeric and duplicated centromeric genes (SMN1 and SMN2, respectively) play a role in the occurrence of SMA types 1 to 4.
A similar approach has been shown to distinguish copy number changes between the 2 highly homologous genes, SMN1 and SMN2 (Bio-Rad).
In the NURTURE study, Spinraza was administered to infants six weeks old or younger, who were in the pre-symptomatic stage, genetically-diagnosed with SMA and had two or three copies of the SMN2 gene.
Qiu et al., "Seamless genetic conversion of SMN2 to SMN1 via CRISPR/Cpf1 and single-stranded oligo-deoxynucleotides in spinal muscular atrophy patient-specific iPSCs," Human Gene Therapy, 2018.