September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Dysfunction of TARDBP is associated with the apoptosis of RGCs in OPTN(E50K)mutant transgenic mice
Author Affiliations & Notes
  • Huiping Yuan
    Harbin medical university, Harbin, China
  • Dawei Lei
    Harbin medical university, Harbin, China
  • Aimeng Dong
    Harbin medical university, Harbin, China
  • Lin Gao
    Harbin medical university, Harbin, China
  • Xinrong Zhou
    Harbin medical university, Harbin, China
  • Footnotes
    Commercial Relationships   Huiping Yuan, None; Dawei Lei, None; Aimeng Dong, None; Lin Gao, None; Xinrong Zhou, None
  • Footnotes
    Support  National Natural Science Foundation of China 81271000, 81470634; the National Basic Research Program of China (973 Program) , 2011CB707502
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 2530. doi:
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    • Get Citation

      Huiping Yuan, Dawei Lei, Aimeng Dong, Lin Gao, Xinrong Zhou; Dysfunction of TARDBP is associated with the apoptosis of RGCs in OPTN(E50K)mutant transgenic mice. Invest. Ophthalmol. Vis. Sci. 2016;57(12):2530.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : In this study, we investigated the distribution and expression of TAR DNA-binding protein (TARDBP) in retinal ganglion cells (RGCs) of OPTN (E50K) mutant transgenic mice, and explored the impact of E50K mutation on TARDBP, which may reveal the mechanism of RGCs apoptosis induced by OPTN (E50K).

Methods : Protein of cytoplasm and nucleus were extracted form retinas from OPTN (E50K) mutant transgenic mice and wild type mice (n=10/group), respectively. Then the expression of TARDBP in cytoplasm and nucleus were determined by Western Blotting. Immunostaining were used to detect the optineurin and TARDBP expression in retina.

Results : Western blotting shown that the cytoplasmic expression level of TARDBP in OPTN (E50K) mutant transgenic mice was significantly higher than that in wild type mice (p<0.05). Immunofluorescence staining showed that optineurin and TARDBP co-localized and distributed as ‘foci’ in cytoplasm of RGCs in OPTN (E50K) mutant transgenic mice, which was not observed in wild type mice.

Conclusions : The abnormalities in expression and distribution of TARDBP in OPTN (E50K) mutant transgenic mice were observed for the first time in our research, and the co-localization of optineurin and TARDBP suggested that the abnormalities were associated with the mutation in the OPTN gene. Therefore, we assume that OPTN(E50K) mutation results in TARDBP dysfunction, thus induces RGCs apoptosis and primary open-angle glaucoma (POAG).

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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