Association of obesity major gene SH2B1 with cognitive and  social functions of autism spectrum disorder

LI Chen-rui; LI Qi; ZHANG Yan-cheng; LI Xiang; YU Di; SHI Ya-xin; FAN Li-li; WU Li-jie

doi:10.11852/zgetbjzz2021-0439

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Chinese Journal of Child Health Care ›› 2021, Vol. 29 ›› Issue (9) : 960-964. DOI: 10.11852/zgetbjzz2021-0439

Basic Experimental Articles

Association of obesity major gene SH2B1 with cognitive and social functions of autism spectrum disorder

LI Chen-rui^*, LI Qi, ZHANG Yan-cheng, LI Xiang, YU Di, SHI Ya-xin, FAN Li-li, WU Li-jie

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Abstract

Objective To discuss the association between the obesity major gene SH2B1 and the cognitive and social functions of autism spectrum disorder(ASD),so as to provide ideas for the etiology of ASD. Methods Using animal behavior tests and RNA-seq,the differences in cognitive and social level and SH2B1 gene expression levels between BTBR mice(n=6)and control mice(n=6)were compared.SH2B1 knockout mice(SH2B1^-/- mice)(n=6)were constructed,then the differences in cognitive level and social function between them and control mice were compared.Western-blot experiment was used to explore the changes in the phosphorylation level of cognitive-related proteins in the hippocampus of SH2B1^-/- mice. Results Compared with control mice,BTBR mice had lower cognitive level(P<0.05),lower social skills(P<0.05),and down-regulation of SH2B1 gene expression level(P<0.05).Compared with control mice,SH2B1^-/- mice showed lower cognitive level(P<0.05)and impairment of social function(P<0.05).Cognitive-related proteins CREB and CaMKⅡ phosphorylation levels of SH2B1^-/- mice were significantly reduced than those in control group(t=2.74,3.62,P<0.01). Conclusion The SH2B1 gene may be highly related to the impairment of cognitive and social functions of ASD.

Key words

autism spectrum disorder / SH2B1 / cognition / cognition-related proteins / social disability

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LI Chen-rui, LI Qi, ZHANG Yan-cheng, LI Xiang, YU Di, SHI Ya-xin, FAN Li-li, WU Li-jie. Association of obesity major gene SH2B1 with cognitive and social functions of autism spectrum disorder[J]. Chinese Journal of Child Health Care. 2021, 29(9): 960-964 https://doi.org/10.11852/zgetbjzz2021-0439

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