candidate gene analysis for autism focusing on the epigenetic mechanism

• Project/Area Number: 18591165
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Jichi Medical University
• Principal Investigator: YAMAGATA Takanori Jichi Medical University, 医学部, 准教授 (00239857)
• Co-Investigator(Kenkyū-buntansha): MORI Masato 自治医科大学, 医学部, 講師 (10337347) ; NAKASHIMA Naomi 自治医科大学, 医学部, 助教 (20337330) ; KUWAJIMA Mari 自治医科大学, 医学部, 研究生 (30398515)
• Project Period (FY): 2006 – 2008
• Project Status: Completed (Fiscal Year 2008)
• Budget Amount: ¥4,060,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥660,000); Fiscal Year 2008: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2007: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2006: ¥1,200,000 (Direct Cost: ¥1,200,000)
• Keywords: 自閉症 / エピジェネティクス / MECP2 / DLX5 / DLX6 / 自閉性障害 / Rett症候群

Research Abstract

自閉性障害の病因・病態に遺伝子不活化などのエピジェネティクス機構が関与していると推定し、Rett症候群の病因遺伝子MECP2により発現調節されている遺伝子群について解析した。自閉性障害患者における変異解析の結果、DLX6に患者のみで変異が検出された。また、一部の患者リンパ芽球でDLX5と他の遺伝子の発現増加が検出された。一部の自閉性障害患者で、これらの遺伝子や遺伝子発現調節機構が病態に関連していることが示唆された。

Research Products

• [Journal Article] Expression analysis and mutation detection of DLX5 and DLX6 in autism. (2009)
  • Author(s): Nakashima N, Yamagata T, Mori M, Kuwajima M, Suwa K, Momoi MY.
  • Journal Title: Brain Dev. In press
  • NAID: 10027212757
  • Peer Reviewed
• [Journal Article] Expression analysis and mutation detection of DLX5 and DLX6 in autism. (2009)
  • Author(s): Nakashima N, Yamagata T, et al.
  • Journal Title: Brain and Development (In press)
  • NAID: 10027212757
  • Peer Reviewed
• [Journal Article] Mutations in the gene encoding CADM1 are associated with autism spectrum disorder. (2008)
  • Author(s): Zhiling Y, Fujita E, Tanabe Y, Yamagata T, Momoi T, Momoi MY.
  • Journal Title: Biochem Biophys Res Commun. 377 Pages: 926-929
  • Peer Reviewed
• [Journal Article] Mutations in the gene encoding CADM1 are associated with autism spectrum disorder. (2008)
  • Author(s): Zhiling Y, Yamagata T, et al.
  • Journal Title: Biochem Biophys Res Commun 377 Pages: 926-929
  • Peer Reviewed
• [Journal Article] Impaired hippocampal synaptic function in secretin deficient mice. (2008)
  • Author(s): Yamagata T, et al.
  • Journal Title: Neuroscience 154 Pages: 1417-1422
  • Peer Reviewed
• [Presentation] Genes relating synaps in 7q31 as Candidate genes for Autism. (2008)
  • Author(s): Nakashima N, Yamagata T, et al
  • Organizer: The 58th Annual Meeting for the American Society of Human Genetics.
  • Place of Presentation: Philaderphia
  • Year and Date: 2008-11-14
• [Presentation] Genes relating synaps in 7q31 as Candidate genes for Autism. (2008)
  • Author(s): Nakashima N, Yamagata T, et al.
  • Organizer: 58^<th> Annual Meeting of American Society of Human Genetics
  • Place of Presentation: Philadelphia
  • Year and Date: 2008-11-14
• [Presentation] Syntrophin-γ2 that interacts with neuroligins is not related with autism. (2008)
  • Author(s): Saito M, Yamagata T, et al
  • Place of Presentation: Philaderphia
  • Year and Date: 2008-11-12
• [Presentation] Syntrophin-γ2 that interacts with neuroligins is not related with autism. (2008)
  • Author(s): Saito M, Yamagata T, et al.
  • Organizer: 58^<th> Annual Meeting of American Society of Human Genetics
  • Place of Presentation: Philadelphia
  • Year and Date: 2008-11-12
• [Presentation] Genes regulated by MECP2 as candidate genes for autism (2007)
  • Author(s): N.Nakashima,T.Yamagata,Z.Yu,K.Suwa,M.Mori,andM.Y.Momoi.
  • Organizer: Annual Meeting of American Society of Human Genetics
  • Place of Presentation: San Diego
  • Year and Date: 2007-10-25
• [Presentation] G-protein coupled receptor genes as genetic risk factor for autism. (2007)
  • Author(s): Zhiling Y, Yamagata T, et al
  • Organizer: 第49回日本小児神経学会総会
  • Place of Presentation: 大阪
  • Year and Date: 2007-07-06
• [Presentation] Imprinted genes relating with MECP2 in 7q21 are not major causative genes for autism. (2006)
  • Author(s): Nakashima N, Yamagata T, et al
  • Organizer: The 56th Annual Meeting for the American Society of Human Genetics.
  • Place of Presentation: New Orleans
  • Year and Date: 2006-10-10