Functional human protein analysis in the post-genome era learning to new autoinflammatory diseases

• Project/Area Number: 22591094
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: 膠原病・アレルギー・感染症内科学
• Research Institution: Kurume University
• Principal Investigator: IDA Hiroaki 久留米大学, 医学部, 准教授 (60363496)
• Co-Investigator(Kenkyū-buntansha): ARIMA Kazuhiko 長崎大学, 医歯薬学総合研究科, 助教 (30423635)
• Co-Investigator(Renkei-kenkyūsha): YOSHIURA Kohichiro 長崎大学, 医歯薬学総合研究科, 教授 (00304931)
• Project Period (FY): 2010 – 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000); Fiscal Year 2012: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000); Fiscal Year 2011: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2010: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: 自己炎症 / 自己炎症疾患 / 遺伝学 / 遺伝子 / ゲノム / 生体分子 / プロテアソーム / 肥大性骨関節症 / 発熱 / 内科 / 自己炎症症候群

Research Abstract

In Nakajo-Nishimura syndrome, a decrease in proteasome activity, which is associated with a novel mutation of the β5i immunoproteasome subunit, causes definitive human autoinflammatory phenotypes. This fact suggests that the ubiquitin-proteasome pathway might play an important role for inflammation and provides a new insight into the pathogenesis of other persistent inflammatory diseases.Primary hypertrophic osteoarthropathy (PHO) should be caused by SLCO2A1mutations and MEFVmutations might be one of the risk factors for inflammatory responses in this disease.

Research Products

• [Journal Article] Familial Mediterranean fever in Japan (2012)
  • Author(s): Migita K, Uehara R, Nakamura Y , Yasunami M, Tsuchiya-Suzuki A, Yazaki M
  • Journal Title: Medicine (Baltimore) Volume: 91 Issue: 6 Pages: 337-343
  • DOI: 10.1097/md.0b013e318277cf75
  • Peer Reviewed
• [Journal Article] Clinical relevance of MEFV gene mutations in Japanese patients with unexplained fever. (2012)
  • Author(s): Migita K, Ida H, Moriuchi H, Agematsu K.
  • Journal Title: J Rheumatol. Volume: 39 Issue: 4 Pages: 875-877
  • DOI: 10.3899/jrheum.110700
  • Peer Reviewed
• [Journal Article] 中條-西村症候群の原因遺伝子とプロテアソーム機能異常 (2012)
  • Author(s): 井田弘明、有馬和彦、金澤伸雄、吉浦孝一郎
  • Journal Title: リウマチ科 Volume: 47 Pages: 654-660
• [Journal Article] プロテアソーム病 (2012)
  • Author(s): 井田弘明、有馬和彦、金澤伸雄、吉浦孝一郎
  • Journal Title: 炎症と免疫 Volume: 20 Pages: 609-614
• [Journal Article] 自己炎症症候群の定義と分類 (2012)
  • Author(s): 井田弘明
  • Journal Title: 九州リウマチ Volume: 32 Pages: 75-78
• [Journal Article] 自己炎症症候群 (分子標的薬) (2012)
  • Author(s): 井田弘明
  • Journal Title: 日本臨床 Volume: 70(suppl 8) Pages: 561-568
• [Journal Article] 自己炎症症候群 (2012)
  • Author(s): 井田弘明
  • Journal Title: 日本医事新報 Volume: 4615 Pages: 78-83
  • NAID: 40019432686
• [Journal Article] Assembly defect due to a PSMB8 mutation reduces proteasome activity and causes the autoinflammatory disorder, Nakajo-Nishimura syndrome (2011)
  • Author(s): Arima, K., Kinoshita, A., Mishima, H., Kanazawa, N., Kaneko, T., Mizushima, T., Ichinose, K., Nakamura, H., Tsujino, A., Kawakami, A., Matsunaka, M., Kasagi, S., Kawano, S., Kumagai, S., Ohmura, K., Mimori, T., Hirano, M., Ueno, S., Tanaka, K., Tanaka, M., Toyoshima, I., Sugino, H., Yamakawa, A., Tanaka, K., Niikawa, N., Furukawa, F., Murata, S., Eguchi, K., Ida, H., Yoshiura, K.
  • Journal Title: Proc.Natl.Acad.Sci.USA Volume: 108 Issue: 36 Pages: 14914-14919
  • DOI: 10.1073/pnas.1106015108
  • Peer Reviewed
• [Journal Article] 特集II自己炎症症候群中條-西村症候群の臨床と病態 (2011)
  • Author(s): 井田弘明、吉浦孝一郎、金澤伸雄
  • Journal Title: 炎症と免疫 Volume: 19 Pages: 153-157
• [Journal Article] 医学用語解説 (2011)
  • Author(s): 井田弘明
  • Journal Title: プロテアソーム炎症と免疫 Volume: 19 Pages: 297-299
• [Journal Article] 中條-西村症候群 (2011)
  • Author(s): 金澤伸雄、有馬和彦、井田弘明、吉浦孝一郎、古川福実
  • Journal Title: 日本臨床免疫学会誌 Volume: 34 Pages: 388-400
  • NAID: 10029898048
• [Journal Article] 中條-西村症候群 (2011)
  • Author(s): 金澤伸雄、有馬和彦、井田弘明、吉浦孝一郎、古川福実
  • Journal Title: 日本臨床免疫学会 Volume: 34 Pages: 388-400
  • NAID: 10029898048
• [Journal Article] 中條-西村症候群 (2010)
  • Author(s): 井田弘明、金澤伸雄
  • Journal Title: 医学のあゆみ Volume: 235 Pages: 1191-1195
  • NAID: 10029898048
• [Journal Article] 自己炎症症候群 (2010)
  • Author(s): 井田弘明
  • Journal Title: カレントテラピー Volume: 28 Pages: 94-95
  • NAID: 40019432686
• [Journal Article] 自己炎症性疾患-発熱性疾患における認知中條-西村症候群 (2010)
  • Author(s): 井田弘明、金澤伸雄
  • Journal Title: 医学のあゆみ Volume: 235 Pages: 1191-1195
• [Journal Article] 特集II 自己炎症症候群中條-西村症候群の臨床と病態 (2010)
  • Author(s): 井田弘明、吉浦孝一郎、金澤伸雄
  • Journal Title: 炎症と免疫 Volume: 19 Pages: 153-157
• [Presentation] Proteasome disability syndrome: a novel autoinflammatory syndrome. (2012)
  • Author(s): Ida H
  • Organizer: IEIIS 2012 Homeostatic Inflammation Symposium
  • Place of Presentation: Tokyo
• [Presentation] 成人の自己炎症性疾患の炎症病態 (2012)
  • Author(s): 井田弘明
  • Organizer: 第55回日本リウマチ学会総会・学術集会
  • Place of Presentation: 神戸
• [Presentation] 新規幼児例の報告と類似疾患の外国報告例との比較 (2012)
  • Author(s): 金澤伸雄中條-西村症候群
  • Organizer: 第55回日本リウマチ学会総会・学術集会
  • Place of Presentation: 神戸
• [Presentation] 全身性炎症を呈する遺伝性プロテアソーム機能不全症の発見 (2012)
  • Author(s): 有馬和彦
  • Organizer: 第55回日本リウマチ学会総会・学術集会
  • Place of Presentation: 神戸
• [Presentation] プロテアソーム機能不全症(中條-西村症候群)の炎症病態 (2012)
  • Author(s): 井田弘明
  • Organizer: 第33回日本炎症再生医学会
  • Place of Presentation: 福岡
• [Presentation] 自己炎症症候群であるプロテアソーム機能不全症の解析結果を利用した関節リウマチの病態解明の試み (2012)
  • Author(s): 井田弘明
  • Organizer: 第56回日本リウマチ学会学術集会
  • Place of Presentation: 東京
• [Presentation] Proteasome disability syndrome: a novel autoinflammatory syndrome (2012)
  • Author(s): Ida H
  • Organizer: IEIIS 2012 Homeostatic Inflammation Symposium
  • Place of Presentation: Tokyo
• [Presentation] 家族性地中海熱症全国免疫学調査集計結果 (2012)
  • Author(s): 右田清志
  • Organizer: 第56回日本リウマチ学会学術集会
  • Place of Presentation: 東京
• [Presentation] 不明熱患者におけるＭＥＦV遺伝子変異の検討 (2012)
  • Author(s): 右田清志
  • Organizer: 第56回日本リウマチ学会学術集会
  • Place of Presentation: 東京
• [Presentation] ＴＮＦ受容体関連周期性症候群（ＴＲＡPＳ）疑い患者の遺伝子解析 (2012)
  • Author(s): 堀内孝彦
  • Organizer: 第56回日本リウマチ学会学術集会
  • Place of Presentation: 東京
• [Presentation] 中條－西村症候群におけるプロテアソーム機能不全と炎症性ケモカインの解析 (2012)
  • Author(s): 有馬和彦
  • Organizer: 第56回日本リウマチ学会学術集会
  • Place of Presentation: 東京
• [Presentation] ＭＥＦＶ遺伝子のＭ６９４Ｉ/Ｐ１５Ｌ変異を認めた家族性地中海熱の一例 (2012)
  • Author(s): 岩永希
  • Organizer: 第56回日本リウマチ学会学術集会
  • Place of Presentation: 東京
• [Presentation] 新規変異（Ｖ１２５Ｍ）が同定されたＴＮＦreceptor-associated periodic syndrome (TRAPS)の一家系 (2012)
  • Author(s): 庄村史子
  • Organizer: 第56回日本リウマチ学会学術集会
  • Place of Presentation: 東京
• [Presentation] 世界に分布するPSMB8遺伝子変異によるプロテアソーム機能不全症候群：脂肪委縮を伴う新しい自己炎症性疾患 (2012)
  • Author(s): 金澤伸雄
  • Organizer: 第56回日本リウマチ学会学術集会
  • Place of Presentation: 東京
• [Presentation] an analysis of the pathogenesis of a new autoinflammatory syndrome, Nakajo-Nishimura syndrome. (2011)
  • Author(s): Ida H Proteasome disability syndrome
  • Organizer: 75th annual meeting of the American College of Rheumatology (ACR 2011)
  • Place of Presentation: Chicago
• [Presentation] A novel mutation of proteasome subunit causes decrease of proteasome activity inNakajo-Nishimura syndrome (familial Japanese fever) (2011)
  • Author(s): Ida H
  • Organizer: 10th World Congress on Inflammation
  • Place of Presentation: Paris
• [Presentation] Nakajo-Nishimura syndrome (familial Japanese fever) and related autoinflammatory disorders accompanied with lipodystrophy. (2011)
  • Author(s): Kanazawa N
  • Organizer: 10th World Congress on Inflammation
  • Place of Presentation: Paris
• [Presentation] プロテアソーム機能不全症(中條-西村症候群)の病態解析 (2011)
  • Author(s): 井田弘明
  • Organizer: 第32回日本炎症・再生医学会
  • Place of Presentation: 京都
• [Presentation] 中條-西村症候群(家族性日本熱)と脂肪萎縮を伴う自己炎症疾患 (2011)
  • Author(s): 金澤伸雄
  • Organizer: 第32回日本炎症・再生医学会
  • Place of Presentation: 京都
• [Presentation] A novel mutation of proteasome subunit causes decrease of proteasome activity in Nakajo-Nishimura syndrome (familial Japanese fever) (2011)
  • Author(s): Ida H
  • Organizer: 10th World Congress on Inflammation
  • Place of Presentation: Paris
• [Presentation] Proteasome disability syndrome : an analysis of the pathogenesis of a new autoinflammatory syndrome, Nakaio-Nishimura syndrome (2011)
  • Author(s): Ida H
  • Organizer: 75th annual meeting of the American College of Rheumatology (ACR 2011)
  • Place of Presentation: Chicago
• [Presentation] プロテアソーム機能不全症(中條-西村症候群)の病態解析 (2011)
  • Author(s): 井田弘明
  • Organizer: 第32回日本炎症・再生医学会
  • Place of Presentation: 京都市
• [Presentation] Functional human protein analysis in the post-genome era learning to new autoinflammatory syndrome (Nakajo-Nishimura syndrome) (2010)
  • Author(s): Hiroaki Ida
  • Organizer: The 6th International Conference on FMF and other Autoinflammatory Diseases
  • Place of Presentation: Amsterdam, Netherlands
  • Year and Date: 2010-09-05
• [Presentation] Decrease of proteasome activity is associated with a novel mutation of the proteasome catalytic subunit in an autoinflammatory disorder, Nakajo-Nishimura syndrome. (2010)
  • Author(s): Arima K
  • Organizer: Annual European Congress of Rheumatology (EULAR 2011)
  • Place of Presentation: London
• [Presentation] 自己炎症疾患の診断と病態解析 (2010)
  • Author(s): 井田弘明
  • Organizer: 第57回日本臨床検査医学会学術集
  • Place of Presentation: 東京
• [Presentation] Functional human protein analysis in the post-genome era learning to new autoinflammatory syndrome (Nakajo-Nishimura syndrome). (2010)
  • Author(s): Ida H
  • Organizer: 6th International Congress on FMF and SAID (Autoinflammation 2010)
  • Place of Presentation: Amsterdam
• [Presentation] National surveillance ofNakajo-Nishimura syndrome (familial Japanese fever) in Japan. (2010)
  • Author(s): Kanazawa N, Nakatani Y, Ida H, Yoshiura K, Furukawa F
  • Organizer: 6th International Congress on FMF and SAID (Autoinflammation 2010)
  • Place of Presentation: Amsterdam
• [Presentation] 自己炎症症候群から学ぶポストゲノム時代の蛋白機能解析 (2010)
  • Author(s): 井田弘明
  • Organizer: 第54回日本リウマチ学会総会・学術集
  • Place of Presentation: 神戸
• [Patent(Industrial Property Rights)] 自己炎症疾患又は自己免疫疾患関連遺 伝子及びその利用 (2011)
  • Inventor(s): 長崎大学:吉浦孝一郎、久留米大学:井田弘明 、和歌山県立医科大学:金澤伸雄
  • Industrial Property Rights Holder: 長崎大学:吉浦孝一郎、久留米大学:井田弘明 、和歌山県立医科大学:金澤伸雄
  • Industrial Property Number: 2011-177269
  • Filing Date: 2011-08-12
• [Patent(Industrial Property Rights)] 自己炎症疾患又は自己免疫疾患関連遺伝子及びその利用 (2011)
  • Inventor(s): 吉浦孝一郎、井田弘明、金澤伸雄
  • Industrial Property Rights Holder: 吉浦孝一郎、井田弘明、金澤伸雄
  • Industrial Property Number: 2011-177269
  • Filing Date: 2011-08-12