{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1360004235484928896.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1111/bpa.12002"}},{"identifier":{"@type":"URI","@value":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fbpa.12002"}},{"identifier":{"@type":"URI","@value":"https://onlinelibrary.wiley.com/doi/pdf/10.1111/bpa.12002"}},{"identifier":{"@type":"PMID","@value":"23088660"}}],"resourceType":"学術雑誌論文(journal article)","dc:title":[{"@value":"Downregulation of the Expression of Mitochondrial Electron Transport Complex Genes in Autism Brains"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:title>Abstract</jats:title><jats:p>Mitochondrial dysfunction (<jats:styled-content style=\"fixed-case\">MtD</jats:styled-content>) and abnormal brain bioenergetics have been implicated in autism, suggesting possible candidate genes in the electron transport chain (<jats:styled-content style=\"fixed-case\">ETC</jats:styled-content>). We compared the expression of 84 <jats:styled-content style=\"fixed-case\">ETC</jats:styled-content> genes in the post‐mortem brains of autism patients and controls. Brain tissues from the anterior cingulate gyrus, motor cortex, and thalamus of autism patients (n = 8) and controls (n = 10) were obtained from <jats:styled-content style=\"fixed-case\">A</jats:styled-content>utism <jats:styled-content style=\"fixed-case\">T</jats:styled-content>issue <jats:styled-content style=\"fixed-case\">P</jats:styled-content>rogram, <jats:styled-content style=\"fixed-case\">USA</jats:styled-content>. <jats:styled-content style=\"fixed-case\">Q</jats:styled-content>uantitative real‐time <jats:styled-content style=\"fixed-case\">PCR</jats:styled-content> arrays were used to quantify gene expression. We observed reduced expression of several <jats:styled-content style=\"fixed-case\">ETC</jats:styled-content> genes in autism brains compared to controls. Eleven genes of Complex <jats:styled-content style=\"fixed-case\">I</jats:styled-content>, five genes each of <jats:styled-content style=\"fixed-case\">C</jats:styled-content>omplex <jats:styled-content style=\"fixed-case\">III</jats:styled-content> and <jats:styled-content style=\"fixed-case\">C</jats:styled-content>omplex <jats:styled-content style=\"fixed-case\">IV</jats:styled-content>, and seven genes of <jats:styled-content style=\"fixed-case\">C</jats:styled-content>omplex <jats:styled-content style=\"fixed-case\">V</jats:styled-content> showed brain region‐specific reduced expression in autism. <jats:italic><jats:styled-content style=\"fixed-case\">ATP5A1</jats:styled-content></jats:italic> (<jats:styled-content style=\"fixed-case\">C</jats:styled-content>omplex <jats:styled-content style=\"fixed-case\">V</jats:styled-content>), <jats:italic><jats:styled-content style=\"fixed-case\">ATP5G3</jats:styled-content></jats:italic> (<jats:styled-content style=\"fixed-case\">C</jats:styled-content>omplex <jats:styled-content style=\"fixed-case\">V</jats:styled-content>) and <jats:italic><jats:styled-content style=\"fixed-case\">NDUFA5</jats:styled-content></jats:italic> (<jats:styled-content style=\"fixed-case\">C</jats:styled-content>omplex <jats:styled-content style=\"fixed-case\">I</jats:styled-content>) showed consistently reduced expression in all the brain regions of autism patients. Upon silencing <jats:italic><jats:styled-content style=\"fixed-case\">ATP5A1</jats:styled-content></jats:italic>, the expression of mitogen‐activated protein kinase 13 (<jats:italic><jats:styled-content style=\"fixed-case\">MAPK13</jats:styled-content></jats:italic>), a p38 <jats:styled-content style=\"fixed-case\">MAPK</jats:styled-content> responsive to stress stimuli, was upregulated in <jats:styled-content style=\"fixed-case\">HEK</jats:styled-content> 293 cells. This could have been induced by oxidative stress due to impaired <jats:styled-content style=\"fixed-case\">ATP</jats:styled-content> synthesis. We report new candidate genes involved in abnormal brain bioenergetics in autism, supporting the hypothesis that mitochondria, critical for neurodevelopment, may play a role in autism.</jats:p>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1030285133608667649","@type":"Researcher","personIdentifier":[{"@type":"KAKEN_RESEARCHERS","@value":"70377753"},{"@type":"NRID","@value":"1000070377753"}],"foaf:name":[{"@value":"Ayyappan Anitha"}],"jpcoar:affiliationName":[{"@value":"Research Center for Child Mental Development Hamamatsu University School of Medicine  Hamamatsu 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