SHANK家族与孤独症谱系障碍的关系研究进展

孙志刚; 李素水; 薛曼; 赵瑞申

doi:10.11852/zgetbjzz2016-24-09-13

PDF(673 KB)

中国儿童保健杂志 ›› 2016, Vol. 24 ›› Issue (9) : 937-939. DOI: 10.11852/zgetbjzz2016-24-09-13

综述与讲座

SHANK家族与孤独症谱系障碍的关系研究进展

孙志刚, 李素水, 薛曼, 赵瑞申

作者信息 +

文章历史 +

摘要

本文综述了SHANK家族与孤独症谱系障碍(ASD)的关系,主要是SHANK家族突变基因对突触功能的影响,尤其对兴奋性突触功能的影响。

关键词

孤独症谱系障碍 / SHANK家族 / 突触功能

引用本文

EndNote

Ris (Procite)

Bibtex

导出引用

孙志刚, 李素水, 薛曼, 赵瑞申. SHANK家族与孤独症谱系障碍的关系研究进展[J]. 中国儿童保健杂志. 2016, 24(9): 937-939 https://doi.org/10.11852/zgetbjzz2016-24-09-13

中图分类号： R179

参考文献

[1] Ecker C,SpoorenW,Murphy DG.Translational approaches to the biology of Autism:false dawn or a new era[J].Mol Psychiatry,2013,18:435-442.
[2] Kleijer KTE,Schmeisser MJ,Krueger DD,et al.Neurobiology of autism gene products:towards pathogenesis and drug targets[J].Psychopharmacology,2014,231:1037-1062.
[3] Sato D,Lionel AC,Leblond CS,et al.SHANK1 deletions in males with autism spectrum disorder[J].Am J Hum Genet,2012,90:879-887.
[4] Hung AY,Futai K,Sala C,et al.Smaller dendritic spines,weaker synaptic transmission,but enhanced spatial learning in mice lacking Shank1[J].J Neurosci,2008,28:1697-1708.
[5] Wöhr M,Roullet FI,Hung AY,et al.Communication impairments in mice lacking Shank1:reduced levels of ultrasonic vocalizations and scent marking behavior[J].PLoS One,2011,6:e20631.
[6] Leblond CS,Heinrich J,Delorme R,et al.Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders[J].PLoS Genet,2012,8:e1002521
[7] Berkel S,Tang W,Trevino M,et al.Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology[J].Hum Mol Genet,2012,21:344-357.
[8] Schmeisser MJ,Ey E,Wegener S,et al.Autistic-like behaviours and hyperactivity in mice lacking ProSAP1 /Shank2[J].Nature,2012,486:256-260.
[9] Won H,Lee HR,Gee HY,et al.Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function[J].Nature,2012,486:261-265.
[10] Phelan K,McDermid HE.The 22q13.3 deletion syndrome (Phelan-McDermid Syndrome)[J].Mol Syndromol,2011,186-201.
[11] Durand CM,Perroy J,Loll F,et al.SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism[J].Mol Psychiatry,2012,17:71-84.
[12] Arons MH,Thynne CJ,Grabrucker AM,et al.Autism- associated mutations in ProSAP2/Shank3 impair synaptic transmission and neurexin-neuroligin-mediated transsynaptic signaling[J].J Neurosci,2012,32:14966-14978.
[13] Shcheglovitov A,Shcheglovitova O,Yazawa M,et al.SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients[J].Nature,2013,503:267-271.
[14] Bozdagi O,Sakurai T,Papapetrou D,et al.Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function,social interaction,and social communication[J].Mol Autism,2010,1:15.
[15] Yang M,Bozdagi O,Scattoni ML,et al.Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice[J].J Neurosci,2012,32:6525-6541.
[16] Peca J,Feliciano C,Ting JT,et al.Shank3 mutant mice display autistic-like behaviours and striatal dysfunction[J].Nature,2011,472:437-442.