A novel adenoviral vector-mediated mouse model of Charcot-Marie-Tooth type 2D (CMT2D)

Abstract

Charcot-Marie-Tooth disease type 2D is a hereditary axonal and glycyl-tRNA synthetase (GARS)-associated neuropathy that is caused by a mutation in GARS. Here, we report a novel GARS-associated mouse neuropathy model using an adenoviral vector system that contains a neuronal-specific promoter. In this model, we found that wild-type GARS is distributed to peripheral axons, dorsal root ganglion (DRG) cell bodies, central axon terminals, and motor neuron cell bodies. In contrast, GARS containing a G240R mutation was localized in DRG and motor neuron cell bodies, but not axonal regions, in vivo. Thus, our data suggest that the disease-causing G240R mutation may result in a distribution defect of GARS in peripheral nerves in vivo. Furthermore, a distributional defect may be associated with axonal degradation in GARS-associated neuropathies.

DOI: 10.1007/s10735-013-9537-0

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@article{Seo2013ANA, title={A novel adenoviral vector-mediated mouse model of Charcot-Marie-Tooth type 2D (CMT2D)}, author={Ah Jung Seo and Youn Ho Shin and Seo Jin Lee and Doyeun Kim and Byung Sun Park and Sunghoon Kim and Kyu Ha Choi and Na Young Jeong and Chan Park and Ji-Yeon Jang and Youngbuhm Huh and Junyang Jung}, journal={Journal of Molecular Histology}, year={2013}, volume={45}, pages={121-128} }