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

doi:10.1007/s10735-013-9537-0

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

Department of Pharmacy

Research output: Contribution to journal › Article › peer-review

12 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 language	English
Pages (from-to)	121-128
Number of pages	8
Journal	Journal of Molecular Histology
Volume	45
Issue number	2
DOIs	https://doi.org/10.1007/s10735-013-9537-0
Publication status	Published - 2014 Apr

Bibliographical note

Funding Information:
Acknowledgments We thank Dr. Paul Schimmel (Scripps Research Institute; La Jolla, CA) for kindly providing the WT and G240R mutant GARS clones. This work was supported by a Global Frontier Project Grant (2012M3A6A2011-0032149) from the National Research Foundation funded by the Ministry of Education, Science and Technology of Korea and a National Research Foundation of Korea (NRF) Grant funded by the Korean government (MEST; No. 20120009380).

All Science Journal Classification (ASJC) codes

Physiology
Histology
Cell Biology

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10.1007/s10735-013-9537-0

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title = "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.",

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

note = "Funding Information: Acknowledgments We thank Dr. Paul Schimmel (Scripps Research Institute; La Jolla, CA) for kindly providing the WT and G240R mutant GARS clones. This work was supported by a Global Frontier Project Grant (2012M3A6A2011-0032149) from the National Research Foundation funded by the Ministry of Education, Science and Technology of Korea and a National Research Foundation of Korea (NRF) Grant funded by the Korean government (MEST; No. 20120009380).",

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doi = "10.1007/s10735-013-9537-0",

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AU - Shin, Youn Ho

AU - Lee, Seo Jin

AU - Kim, Doyeun

AU - Park, Byung Sun

AU - Kim, Sunghoon

AU - Choi, Kyu Ha

AU - Jeong, Na Young

AU - Park, Chan

AU - Jang, Ji Yeon

AU - Huh, Youngbuhm

AU - Jung, Junyang

N1 - Funding Information: Acknowledgments We thank Dr. Paul Schimmel (Scripps Research Institute; La Jolla, CA) for kindly providing the WT and G240R mutant GARS clones. This work was supported by a Global Frontier Project Grant (2012M3A6A2011-0032149) from the National Research Foundation funded by the Ministry of Education, Science and Technology of Korea and a National Research Foundation of Korea (NRF) Grant funded by the Korean government (MEST; No. 20120009380).

PY - 2014/4

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N2 - 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.

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

Abstract

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