Transcriptomic Signatures of Mitochondrial Dysfunction in Autism: Integrated mRNA and microRNA Profiling.

ABSTRACT:

Background

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.

Methods

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.

Results

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,

SUBMITTER: Frye RE 

PROVIDER: S-EPMC12469284 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature