biostudies-literatureFrye REThis research was made possible with funds from Jonty Foundation (St Paul, MN), the XEL Foundation (Pittsburgh, PA) and the Brain Foundation (Pleasanton, CA).1065https://www.ebi.ac.uk/biostudies/studies/S-EPMC12469284biostudies-literatureUnknown16(9)<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,GenesTranscriptomic Signatures of Mitochondrial Dysfunction in Autism: Integrated mRNA and microRNA Profiling.PMC12469284St Paul, MN; Pittsburgh, PAMcCullough SGill PSHill ZRose SPorter-Gill PAFrye REfalseTranscriptomic Signatures of Mitochondrial Dysfunction in Autism: Integrated mRNA and microRNA Profiling.<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,2025-01-01T00:00:00Z2025 Sep2026-05-02T03:19:32.202Z2026-05-02T03:11:38.527ZS-EPMC124692844101001010.3390/genes16091065