The discovery research of the vulnerability factor, which is associated with schizophrenia, through familial clustering cases of both Hermansky-Pudlak syndrome and schizophrenia.

• Project/Area Number: 20790857
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Psychiatric science
• Research Institution: Dokkyo Medical University
• Principal Investigator: SAITO Atsushi Dokkyo Medical University, 医学部, 助教 (00453407)
• Project Period (FY): 2008 – 2010
• Project Status: Completed (Fiscal Year 2010)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2009: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2008: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
• Keywords: 統合失調症 / ヘルマンスキー・パドラック症候群 / 認知機能 / 脳・神経 / 遺伝子 / 脳

Research Abstract

We found the nonsense mutation in the HPS4 gene through sequencing analysis of a familial clustering cases in both Hermansky-Pudlak syndrome (HPS) and psychotic disorders. This mutation probably caused HPS in this family. An association study between the schizophrenics and the controls revealed that minor allele of an intronic single nucleotide polymorphism (SNP) was over-represented in the control samples. And this minor allele was associated with higher working memory. Taken together, genotypic diversity of the HPS4 gene may contribute some pathological aspects of schizophrenia.

Research Products

• [Journal Article] An association study on polymorphisms in the PEA15, ENTPD4, and GAS2L1 genes and schizophrenia. (2011)
  • Author(s): Saito A, Fujikura-Ouchi Y, Ito C, Matsuoka H, Shimoda K, Akiyama K
  • Journal Title: Psychiatry Res. 185 Pages: 9-15
  • Peer Reviewed
• [Journal Article] Chronic methamphetamine psychosis after long -term abstinence in Japanese incarcerated patients. (2011)
  • Author(s): Akiyama K, Saito A, Shimoda K
  • Journal Title: Am J Addict. 20 Pages: 240-249
  • Peer Reviewed
• [Journal Article] DISC1発見からの10年 -研究の発展と課題- (2011)
  • Author(s): 齋藤淳、倉冨剛、秋山一文、神谷篤
  • Journal Title: 精神科 18 Pages: 457-463
• [Journal Article] An association study on polymorphisms in the PEA15, ENTPD4, and GAS2L1 genes and schizophrenia. (2011)
  • Author(s): Saito A, Fujikura-Ouchi Y, Ito C, Matsuoka H, Shimoda K, Akiyama K
  • Journal Title: Psychiatry Res Volume: 185 Pages: 9-15
  • Peer Reviewed
• [Journal Article] Chronic methamphetamine psychosis after long-term abstinence in Japanese incarcerated patients. (2011)
  • Author(s): Akiyama K, Saito A, Shimoda K
  • Journal Title: Am J Addict Volume: 20 Pages: 240-249
  • Peer Reviewed
• [Journal Article] 覚せい剤依存の基礎 (2010)
  • Author(s): 秋山一文、齋藤淳
  • Journal Title: 脳と心のプライマリーケア 第8巻、シナジー 印刷中
• [Journal Article] 大麻(マリファナ)と内在性カンナビノイド (2010)
  • Author(s): 齋藤淳、秋山一文
  • Journal Title: 精神科 16 Pages: 378-382
• [Journal Article] 覚せい剤による依存,精神症状,認知障害 (2010)
  • Author(s): 秋山一文、齋藤淳
  • Journal Title: Schizophrenia Frontier 11 Pages: 104-108
• [Journal Article] Genetic and pharmacokinetic factors affecting the initial pharmacotherapeutic effect of paroxetine in Japanese patients with panic disorder. (2009)
  • Author(s): Saeki Y, Watanabe T, Ueda M, Saito A, Akiyama K, Inoue Y, Hirokane G, Morita S, Yamada N, Shimoda K
  • Journal Title: Eur J Clin Pharmacol. 65 Pages: 685-691
  • Peer Reviewed
• [Journal Article] オメガ-3脂肪酸(DHA, EPA)と精神疾患 (2009)
  • Author(s): 齋藤淳、秋山一文
  • Journal Title: 精神科 14 Pages: 419-424
• [Journal Article] Lance-Adams症候群(低酸素脳症) (2009)
  • Author(s): 秋山一文、齋藤淳
  • Journal Title: 専門医のための精神科臨床リュミエール(中山書店) 14 Pages: 163-165
• [Journal Article] 海馬に局在した海綿状血管腫を伴いカルバマゼピンの単剤療法で発作頻度が減少した複雑部分発作の1例 (2009)
  • Author(s): 秋山一文、齋藤淳、渡邊崇、萩野雅宏
  • Journal Title: 精神科 14 Pages: 254-258
• [Journal Article] Genetic and pharmacokinetic factors affecting the initial pharmacotherapeutic effect of paroxetine in Japanese patients with panic disorder (2009)
  • Author(s): Saeki Y, Watanabe T, Ueda M, Saito A, Akiyama K, et al.
  • Journal Title: Eur J Clin Pharmacol 65 Pages: 685-691
  • Peer Reviewed
• [Journal Article] オメガー3脂肪酸(DHA,EPA)と精神疾患 (2009)
  • Author(s): 齋藤淳、秋山一文
  • Journal Title: 精神科 14 Pages: 264-258
• [Journal Article] Genetic and pharmacokinetic factors affecting the initial pharrnacotherapeutic effect of paroxetine in Japanese patients with panic disorder (2009)
  • Author(s): Saeki Y, Watanabe T, Ued a M, Saito A, Akiyama K, et.al.
  • Journal Title: Eur J Clin Pharmacol 04 March(Epub)
  • Peer Reviewed
• [Journal Article] mRNA expression of activity-regulated cytoskeleton -associated protein (arc) in the amygdala-kindled rats. (2008)
  • Author(s): Akiyama K, Ishikawa M, Saito A
  • Journal Title: Brain Research 1189 Pages: 236-246
  • Peer Reviewed
• [Journal Article] mRNA expression of the Nurr1 and NGFI-B nuclear receptor families following acute and chronic administration of methamphetamine. (2008)
  • Author(s): Akiyama K, Isao T, Ide S, Ishikawa M, Saito A
  • Journal Title: Prog Neuropsychopharmacol Biol Psychiatry. 32 Pages: 1957-1966
  • Peer Reviewed
• [Journal Article] 統合失調症におけるGABA性介在ニューロン仮説 (2008)
  • Author(s): 齋藤淳、秋山一文
  • Journal Title: 精神科 12 Pages: 508-512
• [Journal Article] mRNA expression of the Nurrl and NGFI-B nuclear receptor families following acute and chronic administration of methamphetamine (2008)
  • Author(s): Akiyama K, Isao T, Ide S Ishikawa M, Saito A
  • Journal Title: Prog Neuropsychopharmacol Biol Psychiatry 32 Pages: 1957-1966
  • Peer Reviewed
• [Journal Article] An association study on polymorphisms in the PEA15, ENTPD4 and GAS2L1 genes and schizophrenia.
  • Author(s): Saito A, Fujikura-Ouchi Y, Ito C, et al.
  • Journal Title: Psychiatry Research (In press)
  • Peer Reviewed
• [Presentation] 新規統合失調症関連遺伝子のDNA多型解析および、タンパク機能解析 (2010)
  • Author(s): 齋藤淳
  • Organizer: 第38回獨協医学会
  • Place of Presentation: 壬生
  • Year and Date: 2010-12-04
• [Presentation] A case of Hermansky-Pudlak syndrome with comorbid schizophrenia (2010)
  • Author(s): Atsushi Saito
  • Organizer: The 40^<th> Annual Meeting of Society for Neuroscience
  • Place of Presentation: San Diego
  • Year and Date: 2010-11-16
• [Presentation] A case of Hermansky-Pudlak syndrome with comorbid schizophrenia (2010)
  • Author(s): 齋藤淳
  • Organizer: Society for Neuroscience
  • Place of Presentation: 米国・サンディエゴ
  • Year and Date: 2010-11-16
• [Presentation] ヘルマンスキー・パドラック症候群、統合失調症合併例の遺伝子解析 (2010)
  • Author(s): 齋藤淳
  • Organizer: 第32回日本生物学的精神医学会
  • Place of Presentation: 北九州
  • Year and Date: 2010-10-09
• [Presentation] ヘルマンスキー・パドラック症候群合併例からの統合失調症脆弱性決定遺伝子の探索研究 (2010)
  • Author(s): 齋藤淳
  • Organizer: 第18回日本精神・行動遺伝医学会
  • Place of Presentation: 仙台
  • Year and Date: 2010-09-18