{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Frye RE"],"funding":["This research was made possible with funds from Jonty Foundation (St Paul, MN), the XEL Foundation (Pittsburgh, PA) and the Brain Foundation (Pleasanton, CA)."],"pagination":["1065"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12469284"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["16(9)"],"pubmed_abstract":["<h4>Background</h4>Prior work established that about a third of ASD-derived LCLs show excessive mitochondrial respiration and stress vulnerability-features divergent from both controls and classical mitochondrial disease. This study explores how mRNA and microRNA (miRNA) expression profiles distinguish subtypes of autism spectrum disorder (ASD) defined by mitochondrial function.<h4>Methods</h4>Lymphoblastoid cell lines (LCLs) from boys with ASD were classified into two groups: those with abnormal (AD-A) and normal (AD-N) mitochondrial function. RNA-seq compared mRNA and miRNA expression differences.<h4>Results</h4>24 mRNA differentially expressed genes (DEGs) (14 downregulated, 10 upregulated in AD-N vs. AD-A) were identified, implicating processes such as mRNA processing, immune response,"],"journal":["Genes"],"pubmed_title":["Transcriptomic Signatures of Mitochondrial Dysfunction in Autism: Integrated mRNA and microRNA Profiling."],"pmcid":["PMC12469284"],"funding_grant_id":["St Paul, MN; Pittsburgh, PA"],"pubmed_authors":["McCullough S","Gill PS","Hill Z","Rose S","Porter-Gill PA","Frye RE"],"additional_accession":[]},"is_claimable":false,"name":"Transcriptomic Signatures of Mitochondrial Dysfunction in Autism: Integrated mRNA and microRNA Profiling.","description":"<h4>Background</h4>Prior work established that about a third of ASD-derived LCLs show excessive mitochondrial respiration and stress vulnerability-features divergent from both controls and classical mitochondrial disease. This study explores how mRNA and microRNA (miRNA) expression profiles distinguish subtypes of autism spectrum disorder (ASD) defined by mitochondrial function.<h4>Methods</h4>Lymphoblastoid cell lines (LCLs) from boys with ASD were classified into two groups: those with abnormal (AD-A) and normal (AD-N) mitochondrial function. RNA-seq compared mRNA and miRNA expression differences.<h4>Results</h4>24 mRNA differentially expressed genes (DEGs) (14 downregulated, 10 upregulated in AD-N vs. AD-A) were identified, implicating processes such as mRNA processing, immune response,","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-05-02T03:19:32.202Z","creation":"2026-05-02T03:11:38.527Z"},"accession":"S-EPMC12469284","cross_references":{"pubmed":["41010010"],"doi":["10.3390/genes16091065"]}}