| Literature DB >> 23063130 |
Wendy L Imlach1, Erin S Beck, Ben Jiwon Choi, Francesco Lotti, Livio Pellizzoni, Brian D McCabe.
Abstract
Spinal muscular atrophy (SMA) is a lethal human disease characterized by motor neuron dysfunction and muscle deterioration due to depletion of the ubiquitous survival motor neuron (SMN) protein. Drosophila SMN mutants have reduced muscle size and defective locomotion, motor rhythm, and motor neuron neurotransmission. Unexpectedly, restoration of SMN in either muscles or motor neurons did not alter these phenotypes. Instead, SMN must be expressed in proprioceptive neurons and interneurons in the motor circuit to nonautonomously correct defects in motor neurons and muscles. SMN depletion disrupts the motor system subsequent to circuit development and can be mimicked by the inhibition of motor network function. Furthermore, increasing motor circuit excitability by genetic or pharmacological inhibition of K(+) channels can correct SMN-dependent phenotypes. These results establish sensory-motor circuit dysfunction as the origin of motor system deficits in this SMA model and suggest that enhancement of motor neural network activity could ameliorate the disease.Entities:
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Year: 2012 PMID: 23063130 PMCID: PMC3475188 DOI: 10.1016/j.cell.2012.09.011
Source DB: PubMed Journal: Cell ISSN: 0092-8674 Impact factor: 41.582