SMN1 adenovirus

Survival motor neuron 1 (SMN1) is a key protein-coding gene located on human chromosome 5q13. This gene encodes the SMN protein, which plays a crucial role in the survival and function of motor neurons. The SMN protein is essential for the assembly of small nuclear ribonucleoproteins (snRNPs) and pre-mRNA splicing. Mutations or deletions in the SMN1 gene lead to insufficient SMN protein levels, resulting in spinal muscular atrophy (SMA), a severe neurodegenerative disease characterized by progressive muscle weakness and atrophy. SMA is the leading genetic cause of infant mortality, and therapeutic interventions targeting SMN1 gene repair are urgently needed. While SMN2 (a nearly identical paralog of SMN1) can partially complement the loss of the SMN1 gene, it primarily produces a truncated, non-functional SMN protein, highlighting the need for SMN1-specific therapies for effective SMA treatment.

The SMN1 adenovirus is a recombinant viral vector designed to deliver a functional SMN1 gene to target cells, offering a potential therapeutic strategy for SMA. Adenovirus is an ideal gene delivery vector due to its high transduction efficiency, broad tropism, and ability to infect both dividing and non-dividing cells. The SMN1 adenovirus is designed to carry the full-length SMN1 cDNA and is regulated by a strong promoter, ensuring stable and sustained expression of the SMN protein in motor neurons and other affected tissues. Preclinical studies have demonstrated that SMN1 adenovirus-mediated gene therapy can restore SMN levels, improve motor function, and prolong survival in SMA animal models.