Motor defects in a Drosophila model for spinal muscular atrophy result from SMN depletion during early neurogenesis.

ABSTRACT: Spinal muscular atrophy (SMA) is the most common autosomal recessive neurodegenerative disease, and is characterised by spinal motor neuron loss, impaired motor function and, often, premature death. Mutations and deletions in the widely expressed survival motor neuron 1 (SMN1) gene cause SMA; however, the mechanisms underlying the selectivity of motor neuron degeneration are not well understood. Although SMA is degenerative in nature, SMN function during embryonic and early postnatal development appears to be essential for motor neuron survival in animal models and humans. Notwithstanding, how developmental defects contribute to the subversion of postnatal and adult motor function remains elusive. Here, in a Drosophila SMA model, we show that neurodevelopmental defects precede gross locomo

SUBMITTER: Grice SJ 

PROVIDER: S-EPMC9352204 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature