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

脑影像研究与CNV分析研究相结合阐明单发病家族和多发病家族相关自闭症病理生理学

• 批准号: 23390288
• 负责人: NAKAMURA KAZUHIKO
• 金额: $ 12.31万
• 依托单位: Hirosaki University (2013)Hamamatsu University School of Medicine (2011-2012)
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 2011
• 资助国家: 日本
• 起止时间: 2011-04-01 至 2014-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-23390288/
• 关键词: 児童・思春期精神医学; 自閉症; CNV解析; トリオサンプル; CNV

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..

在203个三人自闭症家庭中，191个是单纯性的，其余12个是多重性的。使用Affymetrix全基因组人类SNP Nsp/ st6.0微阵列对样本进行分析。在所有QC校正后，在受影响儿童中检测到的总共7305个CNVs中，发现3728个是影响基因。其中89.6%被确认为遗传自父母。在剩余的378个CNVs中，鉴定了17个新颖/超罕见的新生事件。在涉及神经发育通路的基因如SHANK3等中观察到新的缺失。

项目成果

Reduced acetylcholinesterase activity in the fusiform gyrus in adults with autism spectrum disorders.

• DOI: 10.1001/archgenpsychiatry.2011.4
• 发表时间: 2011-03
• 期刊: Archives of general psychiatry
• 作者: Katsuaki Suzuki;G. Sugihara;Y. Ouchi;Kazuhiko Nakamura;M. Tsujii;M. Futatsubashi;Y. Iwata;K. Tsuchiya;Kaori Matsumoto;K. Takebayashi;Tomoyasu Wakuda;Y. Yoshihara;Shiro Suda;M. Kikuchi;N. Takei;Toshiro Sugiyama;T. Irie;N. Mori

Microglial activation in adults with Autism Spectrum Disorders

患有自闭症谱系障碍的成人的小胶质细胞激活

• 发表时间: 2012
• 作者: Nakamura K;Suzuki K ;Ouchi Y;Tsujii M;Sugihara G;Iwata Y;Matsumoto K;Takebayashi K;Wakuda T;Sugiyama T;Yoshihara Y;Mori N
• 通讯作者: Mori N

Reduced Acetylcolinesterase Activity In the Fusiform Gyrus In Adults Spectrum Disorders

成人谱系疾病中梭状回乙酰胆碱酯酶活性降低

• 发表时间: 2011
• 作者: 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
• 通讯作者: Mori N

Vldlr overexpression causes hyperactivity in rats.

• DOI: 10.1186/2040-2392-3-11
• 发表时间: 2012-10-30
• 期刊: Molecular autism
• 影响因子: 6.2
• 作者: Iwata K;Izumo N;Matsuzaki 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;Nakamura K;Mori N
• 通讯作者: Mori N

自閉症の生物学的研究について:PET画像研究他

关于自闭症生物学研究：PET影像研究等

• 发表时间: 2011
• 作者: Ota T;Iida J;Sawada M;Suehiro Y,Yamamuro K;Matsuura H;Tanaka S,Kishimoto N;Negoro H;Kishimoto T;中村和彦
• 通讯作者: 中村和彦