Data on the effects of Charcot-Marie-Tooth disease type 2N-associated AARS missense mutation (Arg329-to-His) on the cell biological properties

Naoko Imaizumi; Yu Takeuchi; Haruka Hirano; Tomohiro Torii; Yoichi Seki; Takako Morimoto; Yuki Miyamoto; Hiroyuki Sakagami; Junji Yamauchi

doi:10.1016/j.dib.2019.104029

Data on the effects of Charcot-Marie-Tooth disease type 2N-associated AARS missense mutation (Arg329-to-His) on the cell biological properties

Data Brief. 2019 May 24:25:104029. doi: 10.1016/j.dib.2019.104029. eCollection 2019 Aug.

Authors

Naoko Imaizumi¹, Yu Takeuchi¹, Haruka Hirano¹, Tomohiro Torii², Yoichi Seki¹, Takako Morimoto¹, Yuki Miyamoto³, Hiroyuki Sakagami⁴, Junji Yamauchi^{1

3}

Affiliations

¹ Laboratory of Molecular Neuroscience and Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0355, Japan.
² Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
³ Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan.
⁴ Department of Anatomy, Kitasato University School of Medicine, Sagamihara, Kanagawa 252-0734, Japan.

Abstract

Charcot-Marie-Tooth (CMT) diseases are genetic neuropathies in the peripheral nervous system (PNS). Type 1 CMT diseases are neuropathies in Schwann cells, PNS myelinating glial cells, whereas type 2 CMT diseases are axonal neuropathies. In addition, there are other types of categories in CMT diseases. CMT diseases are associated with approximately 100 responsible genes. Taiwanese mutation (Asn71-to-Tyr) of alanyl-tRNA synthetase (AARS) in type 2N CMT disease has been reported to have several pathological effects on properties of AARS proteins themselves [1]. Also, some mutations in other responsible genes affect cell biological properties of their gene products [2,3]. Herein we provide the data regarding the effects of another type 2N CMT disease-associated AARS mutation (Arg329-to-His) in French family on the cellular properties.

Keywords: AARS; CMT2; CMT2N; Cell biological property; Disease-associated mutation.