Search for genetic causes and autoantibodies of retinitis pigmentosa sine pigmento

• Project/Area Number: 26893018
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Ophthalmology
• Research Institution: Tohoku University
• Principal Investigator: Nishiguchi Koji 東北大学, 医学(系)研究科(研究院), 准教授 (30447825)
• Project Period (FY): 2014-08-29 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000); Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
• Keywords: 網膜変性 / 視細胞 / 網膜色素変性症 / 自己免疫疾患 / 自己抗体 / 遺伝 / 遺伝子 / 免疫 / 神経科学

Outline of Final Research Achievements

Whole exome analysis was performed on 7 patients with retinitis pigmentosa (RP) sine pigmento. Genetic analysis of approximately 150 reported causative genes revealed no pathogenetic mutations in all patients.
Next, we assessed the presence of 8 known antibodies against 8 known autoimmune retinopathy related antigens and quantified total anti retinal antibodies using patients’ serum. The search for autoantibody is still underway. Dot blot revealed increased total retinal antibodies in RP sine pigmento compared to RP with pigments.

Research Products

• [Journal Article] Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations (2016)
  • Author(s): Zheng Wang , Aritoshi Iida , Noriko Miyake , Koji M. Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A. Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F. Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene
  • Journal Title: PloS ONE Volume: 11 Issue: 3 Pages: e0150555-e0150555
  • DOI: 10.1371/journal.pone.0150555
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Brimonidine Enhances the Electrophysiological Response of Retinal Ganglion Cells through the Trk-MAPK/ERK and PI3K Pathways in Axotomized Eyes (2016)
  • Author(s): Masayoshi Yukita, Kazuko Omodaka, Shigeki Machida, Masayuki Yasuda1, Kota Sato, Kazuichi Maruyama, Koji M Nishiguchi, Toru Nakazawa
  • Journal Title: Current Eye Research Volume: 未定
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] In vivo cellular imaging of various stress/response pathways using AAV following axonal injury in mice (2015)
  • Author(s): Kosuke Fujita, Koji M Nishiguchi, Yu Yokoyama, Yusuke Tomiyama, Satoru Tsuda, Masayuki Yasuda, Shigeto Maekawa & Toru Nakazawa
  • Journal Title: Scientific Reports Volume: 5 Issue: 3 Pages: 18141-18141
  • DOI: 10.1371/journal.pone.0153121
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Molecular, anatomical and functional changes in the retinal ganglion cells after optic nerve crush in mice (2015)
  • Author(s): Yukita M, Machida S, Nishiguchi KM, Tsuda S, Yokoyama Y, Yasuda M, Maruyama K, Nakazawa T.
  • Journal Title: Doc Ophthalmol. Volume: 130 Issue: 2 Pages: 149-156
  • DOI: 10.1007/s10633-014-9478-2
  • Peer Reviewed / Open Access