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

Ah Jung Seo, Youn Ho Shin, Seo Jin Lee, Doyeun Kim, Byung Sun Park, Sunghoon Kim, Kyu Ha Choi, Na Young Jeong, Chan Park, Ji Yeon Jang, Youngbuhm Huh, Junyang Jung

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9 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)121-128
Number of pages8
JournalJournal of Molecular Histology
Volume45
Issue number2
DOIs
Publication statusPublished - 2014 Apr

All Science Journal Classification (ASJC) codes

  • Histology
  • Physiology
  • Cell Biology

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    Seo, A. J., Shin, Y. H., Lee, S. J., Kim, D., Park, B. S., Kim, S., Choi, K. H., Jeong, N. Y., Park, C., Jang, J. Y., Huh, Y., & Jung, J. (2014). A novel adenoviral vector-mediated mouse model of Charcot-Marie-Tooth type 2D (CMT2D). Journal of Molecular Histology, 45(2), 121-128. https://doi.org/10.1007/s10735-013-9537-0