Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by mutations in the
SMN1 gene. Being a monogenic disease, it is characterized by high clinical heterogeneity. Variations
in penetrance and severity of symptoms, as well as clinical discrepancies between affected family
members can result from modifier genes influence on disease manifestation. SMN2 gene copy number
is known to be the main phenotype modifier and there is growing evidence of additional factors contributing
to SMA severity. Potential modifiers of spinal muscular atrophy can be found among the
wide variety of different factors, such as multiple proteins interacting with SMN or promoting motor
neuron survival, epigenetic modifications, transcriptional or splicing factors influencing SMN2 expression.
Study of these factors enables to reveal mechanisms underlying SMA pathology and can
have pronounced clinical application.
Keywords: Spinal muscular atrophy, SMN, Genetic modifiers, DNA methylation, Actin cytoskeleton dynamics, Apoptosis.
Rights & PermissionsPrintExport