MiR-34 at the crossroads of SMA pathogenesis and therapy: Emerging biomarker and therapeutic target

Spinal muscular atrophy (SMA) remains a devastating genetic disorder and the leading cause of infant mortality. It is linked to functional loss of the survival motor neuron 1 (SMN1) gene. Restoration of SMN1 protein levels through antisense oligonucleotide (ASO) therapies or gene replacement has dramatically altered the therapeutic landscape.1 Nevertheless, significant challenges persist, namely: (1) the invasive nature of intrathecal delivery; (2) the prohibitive costs associated with treatment; and (3) the unclear biological basis underpinning variable patient responses, which likely reflect underlying disease heterogeneity.