Expression, inactivation and mutation analysis of the candidate genes for Autism

• Project/Area Number: 19790739
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Jichi Medical University
• Principal Investigator: NAKASHIMA Naomi Jichi Medical University, 医学部, 助教 (20337330)
• Project Period (FY): 2007 – 2009
• Project Status: Completed (Fiscal Year 2009)
• Budget Amount: ¥3,840,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥540,000); Fiscal Year 2009: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2008: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2007: ¥1,500,000 (Direct Cost: ¥1,500,000)
• Keywords: 自閉性障害 / エピジェネティクス機構 / 遺伝的刷り込み現象 / 遺伝子不活化 / MECP2 / エピジェネディクス機構

Research Abstract

To clarify the pathogenesis of autistic spectrum disorder (ASD),we analyzed the expression level and mutation of DLX5、DLX6、BDNF、SGK1、FXYD1、IGF2 and IGFBP3.
In DLX6, we detected a base change in 2 ASD patients. The expression level of DLX5 was not different between ASD and controls but was higher in four ASD patients compared to controls. In SGK1, the expression level of the ASD group was higher than the control group significantly.
DLX5, DLX6 and SGK1 is considered to relate with autism.

Research Products

• [Journal Article] Expression analysis and mutation detection of DLX5 and DLX6 in Autism. (2010)
  • Author(s): Naomi Nakashima, Takanori Yamagata, Mariko Y. Momoi, 他3名(3番目～5番目)
  • Journal Title: Brain & Development 32 Pages: 98-104
  • NAID: 10027212757
  • Peer Reviewed
• [Journal Article] Expression analysis and mutation detection of DLX5 and DLX6 in autism (2010)
  • Author(s): Naomi Nakashima, et al.
  • Journal Title: Brain & Development 32 Pages: 98-104
  • NAID: 10027212757
  • Peer Reviewed
• [Journal Article] Expression analysis and mutation detection of DLX5 and DLX6 in autism (2009)
  • Author(s): Naomi Nakashima
  • Journal Title: Brain and Development (In press)
  • NAID: 10027212757
  • Peer Reviewed
• [Presentation] Gene relating to synaptogenesis located on 7q31 as Candidate gene for Autism. (2008)
  • Author(s): Naomi Nakashima
  • Organizer: 第58回アメリカ人類遺伝学会
  • Place of Presentation: 米国(フィラデルフィア)
  • Year and Date: 2008-11-12
• [Presentation] Genes relating to synaptogenesis located on 7q31 as Candidate genes for Autism (2008)
  • Author(s): Naomi Nakashima
  • Organizer: 第58回アメリカ人類遺伝学会
  • Place of Presentation: 米国(ペンシルバニア州フィラデルフィア)
  • Year and Date: 2008-11-12
• [Presentation] Genes regulated by MECP2 as candidate genes for autism. (2007)
  • Author(s): Naomi Nakashima
  • Organizer: 第57回アメリカ人類遺伝学会
  • Place of Presentation: 米国(サンディエゴ)
  • Year and Date: 2007-10-26
• [Presentation] Genes regulated by MECP2 as candidate genes for autism (2007)
  • Author(s): 中島 尚美
  • Organizer: 第57回アメリカ人類遺伝学会
  • Place of Presentation: 米国(サンディエゴ)
  • Year and Date: 2007-10-26