Deletion of Mex3c gene leads to autistic-like behavior in mice by inhibiting AMPK signal pathway

IntroductionAutism Spectrum Disorder (ASD) is a hereditary neurodevelopmental condition influenced by genetic alterations, particularly in genes regulating neural development and synaptic plasticity. Emerging evidence suggests that the Mex3c gene plays a role in energy metabolism and neuronal develo...

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Main Authors: Hui Cai, Chengping Zhang, Haonan Zhang, Yong Du, Kai Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Behavioral Neuroscience
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Online Access:https://www.frontiersin.org/articles/10.3389/fnbeh.2025.1551440/full
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author Hui Cai
Chengping Zhang
Haonan Zhang
Yong Du
Yong Du
Kai Wang
author_facet Hui Cai
Chengping Zhang
Haonan Zhang
Yong Du
Yong Du
Kai Wang
author_sort Hui Cai
collection DOAJ
description IntroductionAutism Spectrum Disorder (ASD) is a hereditary neurodevelopmental condition influenced by genetic alterations, particularly in genes regulating neural development and synaptic plasticity. Emerging evidence suggests that the Mex3c gene plays a role in energy metabolism and neuronal development, indicating its potential relevance to ASD pathogenesis.MethodsTo investigate the role of Mex3c in ASD, we generated Mex3c knockout (KO) mice and conducted a series of behavioral tests, histological analyses, and molecular assays. Behavioral phenotyping included elevated plus maze, open-field test, and three-chamber social interaction test. Histological assessments included Nissl staining, Golgi-Cox staining, and transmission electron microscopy. Molecular evaluations included Western blotting and analysis of the AMPK/SIRT1/PGC1α signaling pathway.ResultsMex3c KO mice exhibited autistic-like behaviors, including social deficits and anxiety-like traits. These behavioral abnormalities were accompanied by reduced neuronal number, decreased dendritic spine density, and impaired synaptic protein expression in the hippocampus. Mitochondrial structural damage and dysfunction were observed, alongside suppression of the AMPK/SIRT1/PGC1α signaling pathway.ConclusionOur findings suggest that Mex3c gene deletion induces ASD-like phenotypes in mice, potentially through disruption of mitochondrial function and synaptic integrity via the AMPK/SIRT1/PGC1? pathway. These results support the candidacy of Mex3c as a susceptibility gene for ASD and highlight mitochondrial signaling pathways as potential therapeutic targets.
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spelling doaj-art-a4be233a29f04e04852f678c87f7670c2025-08-20T03:47:36ZengFrontiers Media S.A.Frontiers in Behavioral Neuroscience1662-51532025-05-011910.3389/fnbeh.2025.15514401551440Deletion of Mex3c gene leads to autistic-like behavior in mice by inhibiting AMPK signal pathwayHui Cai0Chengping Zhang1Haonan Zhang2Yong Du3Yong Du4Kai Wang5First School of Clinical Medicine, Ningxia Medical University, Yinchuan, ChinaFirst School of Clinical Medicine, Ningxia Medical University, Yinchuan, ChinaFirst School of Clinical Medicine, Ningxia Medical University, Yinchuan, ChinaFirst School of Clinical Medicine, Ningxia Medical University, Yinchuan, ChinaDepartment of Pediatric Surgery, General Hospital of Ningxia Medical University, Yinchuan, ChinaFirst School of Clinical Medicine, Ningxia Medical University, Yinchuan, ChinaIntroductionAutism Spectrum Disorder (ASD) is a hereditary neurodevelopmental condition influenced by genetic alterations, particularly in genes regulating neural development and synaptic plasticity. Emerging evidence suggests that the Mex3c gene plays a role in energy metabolism and neuronal development, indicating its potential relevance to ASD pathogenesis.MethodsTo investigate the role of Mex3c in ASD, we generated Mex3c knockout (KO) mice and conducted a series of behavioral tests, histological analyses, and molecular assays. Behavioral phenotyping included elevated plus maze, open-field test, and three-chamber social interaction test. Histological assessments included Nissl staining, Golgi-Cox staining, and transmission electron microscopy. Molecular evaluations included Western blotting and analysis of the AMPK/SIRT1/PGC1α signaling pathway.ResultsMex3c KO mice exhibited autistic-like behaviors, including social deficits and anxiety-like traits. These behavioral abnormalities were accompanied by reduced neuronal number, decreased dendritic spine density, and impaired synaptic protein expression in the hippocampus. Mitochondrial structural damage and dysfunction were observed, alongside suppression of the AMPK/SIRT1/PGC1α signaling pathway.ConclusionOur findings suggest that Mex3c gene deletion induces ASD-like phenotypes in mice, potentially through disruption of mitochondrial function and synaptic integrity via the AMPK/SIRT1/PGC1? pathway. These results support the candidacy of Mex3c as a susceptibility gene for ASD and highlight mitochondrial signaling pathways as potential therapeutic targets.https://www.frontiersin.org/articles/10.3389/fnbeh.2025.1551440/fullautism spectrum disordermitochondrial functionMex3csynaptic plasticitysocial behaviorneurodevelopment
spellingShingle Hui Cai
Chengping Zhang
Haonan Zhang
Yong Du
Yong Du
Kai Wang
Deletion of Mex3c gene leads to autistic-like behavior in mice by inhibiting AMPK signal pathway
Frontiers in Behavioral Neuroscience
autism spectrum disorder
mitochondrial function
Mex3c
synaptic plasticity
social behavior
neurodevelopment
title Deletion of Mex3c gene leads to autistic-like behavior in mice by inhibiting AMPK signal pathway
title_full Deletion of Mex3c gene leads to autistic-like behavior in mice by inhibiting AMPK signal pathway
title_fullStr Deletion of Mex3c gene leads to autistic-like behavior in mice by inhibiting AMPK signal pathway
title_full_unstemmed Deletion of Mex3c gene leads to autistic-like behavior in mice by inhibiting AMPK signal pathway
title_short Deletion of Mex3c gene leads to autistic-like behavior in mice by inhibiting AMPK signal pathway
title_sort deletion of mex3c gene leads to autistic like behavior in mice by inhibiting ampk signal pathway
topic autism spectrum disorder
mitochondrial function
Mex3c
synaptic plasticity
social behavior
neurodevelopment
url https://www.frontiersin.org/articles/10.3389/fnbeh.2025.1551440/full
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