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Clarification of pathophysiology of autism related to single-incidence family and multiple-incidence families by combining brain imaging study and CNV analysis study

Research Project

Project/Area Number 23390288
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Psychiatric science
Research InstitutionHirosaki University (2013)
Hamamatsu University School of Medicine (2011-2012)

Principal Investigator

NAKAMURA KAZUHIKO  弘前大学, 医学(系)研究科(研究院), 教授 (80263911)

Co-Investigator(Kenkyū-buntansha) OUCHI Yasuomi  浜松医科大学, 学内共同利用施設等, 教授 (40436978)
TSUZII Masatsugu  中京大学, 現代社会学部, 教授 (20257546)
IWATA Yasuhide  浜松医科大学, 医学部附属病院, 講師 (10285025)
SUZUKI Katsuaki  浜松医科大学, 学内共同利用施設等, 准教授 (00285040)
MORI Norio  浜松医科大学, 医学部, 教授 (00174376)
TAKEBAYASHI Kiyokazu  浜松医科大学, 医学部附属病院, 講師 (50397428)
吉原 雄二郎  浜松医科大学, 医学部, 研究員 (00529464)
Project Period (FY) 2011-04-01 – 2014-03-31
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥19,240,000 (Direct Cost: ¥14,800,000、Indirect Cost: ¥4,440,000)
Fiscal Year 2013: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2012: ¥7,020,000 (Direct Cost: ¥5,400,000、Indirect Cost: ¥1,620,000)
Fiscal Year 2011: ¥7,410,000 (Direct Cost: ¥5,700,000、Indirect Cost: ¥1,710,000)
Keywords児童・思春期精神医学 / 自閉症 / CNV解析 / トリオサンプル / CNV
Research Abstract

Among the 203 trio autism families, 191 were simplex, while the remaining 12 were multiplex. The samplese were analyzed using Affymetrix Genome-Wide Human SNP Nsp/Sty 6.0 microarray. Among a total of 7305 CNVs detected in affected children after all QC corrections, 3728 were found to be affecting genes. 89.6% of these were confirmed to be inheited from parents. Among the remaining 378 CNVs, 17 novel/ultra-rare de novo events were identified.Novel deletions were observed in genes involved in neurodevelopmental pathways such as SHANK3 et al..

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Annual Research Report
  • 2011 Annual Research Report
  • Research Products

    (40 results)

All 2014 2013 2012 2011

All Journal Article (32 results) (of which Peer Reviewed: 31 results) Presentation (8 results)

  • [Journal Article] Zinc finger protein 804A (ZNF804A) and verbal deficits in individuals with autism2014

    • Author(s)
      Anitha A, Thanseem I, Nakamura K, Vasu MM, Yamada K, Ueki T, Iwayama Y, Toyota T, Tsuchiya KJ, Iwata Y, Suzuki K, Sugiyama T, Tsujii M, Yoshikawa T, Mori N
    • Journal Title

      J Psychiatry Neurosci

      Volume: 39 Pages: 130126-130126

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] N-ethylmaleimide-sensitive factor interacts with the serotonin transporter and modulates its trafficking: implications for pathophysiology in autism2014

    • Author(s)
      Iwata K, Matsuzaki H, Tachibana T, Ohno K, Yoshimura S, Takamura H, Yamada K, Matsuzaki S, Nakamura K, Tsuchiya KJ, Matsumoto K, Tsujii M, Sugiyama T, Katayama T, Mori N
    • Journal Title

      Mol Autism 2014 10

      Volume: 5 Pages: 33-33

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Serum levels of soluble platelet endothelial cell adhesion molecule-1 and vascular cell adhesion molecule-1 are decreased in subjects with autism spectrum disorder2013

    • Author(s)
      Kameno Y, Iwata K, Matsuzaki H, Miyachi T, Tsuchiya KJ, Matsumoto K, Iwata Y, Suzuki K, Nakamura K, Maekawa M, Tsujii M, Sugiyama T, Mori N
    • Journal Title

      Mol Autism. 2013 17

      Volume: 4 Pages: 19-19

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Enzymes in the glutamate-glutamine cycle in the anterior cingulate cortex in postmortem brain of subjects with autism2013

    • Author(s)
      Shimmura C, Suzuki K, Iwata Y, Tsuchiya KJ, Ohno K, Matsuzaki H, Iwata K, Kameno Y, Takahashi T, Wakuda T, Nakamura K, Hashimoto K, Mori N
    • Journal Title

      Mol Autism.2013 26

      Volume: 4 Pages: 6-6

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Microglial activation in young adults with autism spectrum disorder2013

    • Author(s)
      Suzuki K, Sugihara G, Ouchi Y, Nakamura K, Futatsubashi M, Takebayashi K, Yoshihara Y, Omata K, Matsumoto K, Tsuchiya KJ, Iwata Y, Tsujii M, Sugiyama T, Mori N
    • Journal Title

      JAMA Psychiatry

      Volume: 70 Pages: 49-58

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Downregulation of the expression of mitochondrial electron transport complex genes in autism brains2013

    • Author(s)
      Anitha A, Nakamura K, Thanseem I, Matsuzaki H, Miyachi T, Tsujii M, Iwata Y, Suzuki K, Sugiyama T, Mori N
    • Journal Title

      Brain Pathol

      Volume: 23 Pages: 294-302

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Protocadherin α (PCDHA) a novel susceptibilitygeneforautism2013

    • Author(s)
      A(as) nitha A, Thanseem I, Nakamura K, Yamada K, Iwayama Y, Toyota T, Iwata Y, Suzuki K, Sugiyama T, Tsujii M, Yoshikawa T, Mori N
    • Journal Title

      J Psychiatry Neurosci

      Volume: 38 Pages: 192-8

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Serum levels of soluble platelet endothelial cell adhesion molecule-1 and vascular cell adhesion molecule-1 are decreased in subjects with autism spectrum disorder.2013

    • Author(s)
      Kameno Y, Iwata K, Matsuzaki H, Miyachi T, Tsuchiya KJ, Matsumoto K, Iwata Y, Suzuki K, Nakamura K, Maekawa M, Tsujii M, Sugiyama T, Mori N.
    • Journal Title

      Mol Autism

      Volume: 4 Issue: 1 Pages: 19-19

    • DOI

      10.1186/2040-2392-4-19

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Enzymes in the glutamate-glutamine cycle in the anterior cingulate cortex in postmortem brain of subjects with autism2013

    • Author(s)
      Shimmura C
    • Journal Title

      Molecular Autism

      Volume: 4 Issue: 1 Pages: 6-6

    • DOI

      10.1186/2040-2392-4-6

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Downregulation of the expression of mitochondrial electron transport complex genes in autism brains.2013

    • Author(s)
      Anitha A, Nakamura K, Thanseem I, Matsuzaki H, Miyachi T, Tsujii M, Iwata Y, Suzuki K, Sugiyama T, Mori N.
    • Journal Title

      Brain Pathol.

      Volume: 23 Issue: 3 Pages: 294-302

    • DOI

      10.1111/bpa.12002

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Protocadherin α (PCDHA) as a novel susceptibility gene for autism.2013

    • Author(s)
      Anitha A, Thanseem I, Nakamura K, Yamada K, Iwayama Y, Toyota T, Iwata Y, Suzuki K, Sugiyama T, Tsujii M, Yoshikawa T, Mori N.
    • Journal Title

      J Psychiatry Neurosci.

      Volume: 38 Issue: 3 Pages: 192-198

    • DOI

      10.1503/jpn.120058

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Microglial activation in young adults with autism spectrum disorder2013

    • Author(s)
      Suzuki K
    • Journal Title

      JAMA Psychiatry

      Volume: 70 Issue: 1 Pages: 49-58

    • DOI

      10.1001/jamapsychiatry.2013.272

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Brain region-specific altered expression and association of mitochondria-related genes in autism2012

    • Author(s)
      Anitha A, Nakamura K, Thanseem I, Yamada K, Iwayama Y, Toyota T, Matsuzaki H, Miyachi T, Yamada S, Tsujii M, Tsuchiya KJ, Matsumoto K, Iwata Y, Suzuki K, Ichikawa H, Sugiyama T, Yoshikawa T, Mori N
    • Journal Title

      Mol Autism. 2012 1

      Volume: 3 Pages: 12-12

    • Related Report
      2013 Final Research Report
  • [Journal Article] Vldlr overexpression hyperactivity in rats2012

    • Author(s)
      Iwata K, Izumo NMatsuzaki H, Manabe T, Ishibashi Y, Ichitani Y, Yamada K, Thanseem I, Anitha A, Vasu MM, Shimmura C, Wakuda T, Kameno Y, Takahashi T, Iwata Y, Suzuki K, ,(causes) Nakamura K, Mori N
    • Journal Title

      Mol Autism

      Volume: 3 Pages: 11-11

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Elevated transcription factor specificity protein 1 in autistic brains alters the expression of autism candidate genes2012

    • Author(s)
      Thanseem I, Anitha A, Nakamura K, Suda S, Iwata K, Matsuzaki H, Ohtsubo M, Ueki T, Katayama T, Iwata Y, Suzuki K, Minoshima S, Mori N
    • Journal Title

      Biol Psychiatry

      Volume: 71 Pages: 410-8

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Brain region-specific altered expression and association of mitochondria-related genes in autism2012

    • Author(s)
      Anitha A
    • Journal Title

      Molecular Autism

      Volume: 3 Issue: 1 Pages: 12-12

    • DOI

      10.1186/2040-2392-3-12

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Elevated transcription factor specificity protein 1 in autistic brains alters the expression of autism candidate genes.2012

    • Author(s)
      Thanseem I
    • Journal Title

      Biol Psychiatry

      Volume: 71 Issue: 5 Pages: 410-8

    • DOI

      10.1016/j.biopsych.2011.09.020

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Vldlr overexpression causes hyperactivity in rats.2012

    • Author(s)
      Iwata K
    • Journal Title

      Mol Autism.

      Volume: 3 Issue: 1 Pages: 11-11

    • DOI

      10.1186/2040-2392-3-11

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Elevated transcription factor specificity protein 1 in autistic brains alters the expression of autism candidate genes2012

    • Author(s)
      Thanseem I
    • Journal Title

      Biol Psychiatry

      Volume: 71 Pages: 410-418

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Investigation of the serum levels of anterior pituitary hormones in male children with autism2011

    • Author(s)
      Iwata K, Matsuzaki H, Miyachi T, Shimmura C, Suda S, Tsuchiya KJ, Matsumoto K, Suzuki K, Iwata Y, Nakamura K, Tsujii M, Sugiyama T, Sato K, Mori N
    • Journal Title

      Mol Autism

      Volume: 2 Pages: 16-16

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Alteration of plasma glutamate and glutamine levels in children with high-functioning autism2011

    • Author(s)
      Shimmura C, Suda S, Tsuchiya KJ, Hashimoto K, Ohno K, Matsuzaki H, Iwata K, Matsumoto K, Wakuda T, Kameno Y, Suzuki K, Tsujii M, Nakamura K, Takei N, Mori N
    • Journal Title

      PLoS One

      Volume: 6

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Association of transcription factor gene LMX1B with autism2011

    • Author(s)
      Thanseem I, Nakamura K, Anitha A, Suda S, Yamada K, Iwayama Y, Toyota T, Tsujii M, Iwata Y, Suzuki K, Matsuzaki H, Iwata K, Sugiyama T, Yoshikawa T, Mori N
    • Journal Title

      PLoS One

      Volume: 6

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Decreased expression of axon-guidance receptors in the anterior cingulate cortex in autism2011

    • Author(s)
      Suda S, Iwata K, Shimmura C, Kameno Y, Anitha A, Thanseem I, Nakamura K, Matsuzaki H, Tsuchiya KJ, Sugihara G, Iwata Y, Suzuki K, Koizumi K, Higashida H, Takei N, Mori N
    • Journal Title

      Mol Autism

      Volume: 2 Pages: 14-14

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Plasma cytokine profiles in subjects with high-functioning autism spectrum disorders2011

    • Author(s)
      Suzuki K, Matsuzaki H, Iwata K, Kameno Y, Shimmura C, Kawai S, Yoshihara Y, Wakuda T, Takebayashi K, Takagai S, Matsumoto K, Tsuchiya KJ, Iwata Y, Nakamura K, Tsujii M, Sugiyama T, Mori N
    • Journal Title

      PLoS One

      Volume: 6

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Reduced acetylcholinesterase activity in the fusiform gyrus in adults with autism spectrum disorders2011

    • Author(s)
      Suzuki K, Sugihara G, Ouchi Y, Nakamura K, Tsujii M, Futatsubashi M, Iwata Y, Tsuchiya KJ, Matsumoto K, Takebayashi K, Wakuda T, Yoshihara Y, Suda S, Kikuchi M, Takei N, Sugiyama T, Irie T, Mori N
    • Journal Title

      Arch Gen Psychiatry

      Volume: 68 Pages: 306-13

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Replication study of Japanese cohorts supports the role of STX1A in autism susceptibility2011

    • Author(s)
      Nakamura K, Iwata Y, Anitha A, Miyachi T, Toyota T, Yamada S, Tsujii M, Tsuchiya KJ, Iwayama Y, Yamada K, Hattori E, Matsuzaki H, Matsumoto K, Suzuki K, Suda S, Takebayashi K, Takei N, Ichikawa H, Sugiyama T, Yoshikawa T, Mori N
    • Journal Title

      Prog Neuropsychopharmacol Biol Psychiatry

      Volume: 35(2) Pages: 454-8

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Investigation of the serum levels of anterior pituitary hormones in male children with autism2011

    • Author(s)
      Iwata K
    • Journal Title

      Mol Autism

      Volume: 2 Pages: 16-16

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Alteration of plasma glutamate and glutamine levels in children with high-functioning autism2011

    • Author(s)
      Shimmura C
    • Journal Title

      PloS One

      Volume: 6

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association of transcription factor gene LMX1B with autism2011

    • Author(s)
      Thanseem I
    • Journal Title

      PloS One

      Volume: 6

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Decreased expression of axon-guidance receptors in the anterior cingulate cortex in autism2011

    • Author(s)
      Suda S
    • Journal Title

      Mol Autism

      Volume: 2 Pages: 14-14

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Plasma cytokine profiles in subjects with high-functioning autism spectrum disorders2011

    • Author(s)
      Suzuki K
    • Journal Title

      PloS One

      Volume: 6

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Reduced acetylcholinesterase activity in the fusiform gyrus in adults with autism spectrum disorders2011

    • Author(s)
      Suzuki K
    • Journal Title

      Arch Gen Psychiatry

      Volume: 68 Pages: 306-313

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Presentation] Microglial activation in adults with Autism Spectrum Disorders2012

    • Author(s)
      Nakamura K, Suzuki K , Ouchi Y, Tsujii M, Sugihara G, Iwata Y, Matsumoto K, Takebayashi K, Wakuda T, Sugiyama T, Yoshihara Y, Mori N
    • Organizer
      11th Annual International Meeting For Autism Research
    • Place of Presentation
      Toronto
    • Related Report
      2013 Final Research Report
  • [Presentation] Glutanate dysfunction in the basal ganglia of Autism Spectrum Disorders:an MRS study2012

    • Author(s)
      Yoshihara Y, Sugihara G, Ishizuka A, Yogo H, Nakamura K, Sugiyama T, Matsumoto K, Tsuchiya KJ, Suzuki K , Takei N, Tsujii M, Mori N
    • Organizer
      11th Annual International Meeting For Autism Research
    • Place of Presentation
      Toronto
    • Related Report
      2013 Final Research Report
  • [Presentation] Microglial activation in young adults with autism spectrum disorder.2012

    • Author(s)
      Nakamura K
    • Organizer
      IMFAR
    • Place of Presentation
      Toronto
    • Related Report
      2012 Annual Research Report
  • [Presentation] 自閉症の生物学的研究について:PET画像研究他2011

    • Author(s)
      中村和彦
    • Organizer
      第52回日本児童青年精神医学会総会
    • Place of Presentation
      徳島市
    • Year and Date
      2011-11-10
    • Related Report
      2011 Annual Research Report
  • [Presentation] 自閉症の生物学的研究について(PET他)2011

    • Author(s)
      中村和彦
    • Organizer
      第16回グリア研究会
    • Place of Presentation
      名古屋
    • Year and Date
      2011-10-22
    • Related Report
      2013 Final Research Report
  • [Presentation] 自閉症の生物学的研究について(PET他)2011

    • Author(s)
      中村和彦
    • Organizer
      第16回グリア研究会
    • Place of Presentation
      名古屋市
    • Year and Date
      2011-10-22
    • Related Report
      2011 Annual Research Report
  • [Presentation] Reduced Acetylcolinesterase Activity In the Fusiform Gyrus In Adults Spectrum Disorders2011

    • Author(s)
      Nakamura K, Suzuki K , Sugihara G, Ouchi Y, Tsujii M, Sugihara Y, Iwata Y, Matsumoto K, Takebayashi K, Wakuda T, Yoshihara Y, Suda S, Kikuchi M, Takei N, Sugiyama T, Mori N
    • Organizer
      10th Annual International Meeting For Autism Research
    • Place of Presentation
      San Diego
    • Related Report
      2013 Final Research Report
  • [Presentation] 自閉症の生物学的研究について:PET画像研究他2011

    • Author(s)
      中村和彦
    • Organizer
      第52回日本児童青年精神医学会総会
    • Place of Presentation
      徳島
    • Related Report
      2013 Final Research Report

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Published: 2011-04-06   Modified: 2019-07-29  

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