Adenoviral-mediated mouse model of motor impairment in distal spinal muscular atrophy type V

Abstract

Distal spinal muscular atrophy type V (dSMA-V) is a hereditary neurodegenerative axonal neuropathy and a glycyl-tRNA synthetase (GARS)-associated neuropathy that is caused by a mutation in GARS. Herein, we report a new GARS-associated neuropathy mouse model using an adenovirus vector system equipped with a neuron-specific promoter. In this model, we showed an increased number of activated microglia around the L129P mutant-expressing motor neuron cell bodies and the increased nerve injury signal in L129P mutant-expressing motor neuron cell bodies. In addition, we found that the mouse model exhibited impaired motor function caused by the L129P mutant. We propose that the neuroinflammation may be associated with motor neuron impairment in GARS-associated neuropathies.