SMN2focused
SMN2focused is a term that refers to research and therapeutic strategies specifically targeting the Survival Motor Neuron 2 (SMN2) gene. SMN2 is a gene that is closely related to the SMN1 gene, mutations in which are the primary cause of spinal muscular atrophy (SMA). While SMN1 is largely non-functional in individuals with SMA, SMN2 is present and can produce a truncated, less functional protein.
The focus on SMN2 stems from its potential as a therapeutic target. Unlike SMN1, which is mutated
This strategy aims to restore SMN protein levels in motor neurons, which are progressively lost in SMA,