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Related Concept Videos

MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...

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Preparation of Mitochondrial Enriched Fractions for Metabolic Analysis in Drosophila
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Transcriptomic Signatures of Mitochondrial Dysfunction in Autism: Integrated mRNA and microRNA Profiling.

Richard E Frye1, Zoe Hill1, Shannon Rose2

  • 1Autism Discovery and Treatment Foundation, Phoenix, AZ 85050, USA.

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|September 27, 2025
PubMed
Summary
This summary is machine-generated.

Mitochondrial dysfunction in autism spectrum disorder (ASD) is linked to specific gene expression changes and disruptions in cellular pathways like mTOR. These findings may lead to new biomarkers and therapies for ASD subtypes.

Keywords:
CamKinase IIautism spectrum disordercell growthmTORmicroRNAmitochondria

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Area of Science:

  • Neuroscience
  • Genetics
  • Cell Biology

Background:

  • Autism spectrum disorder (ASD) exhibits subtypes with distinct mitochondrial respiration and stress vulnerabilities.
  • Understanding molecular differences is key to addressing ASD heterogeneity.

Purpose of the Study:

  • To differentiate ASD subtypes based on mitochondrial function using mRNA and microRNA (miRNA) expression profiles.
  • To identify molecular signatures associated with mitochondrial dysfunction in ASD.

Main Methods:

  • Lymphoblastoid cell lines (LCLs) from boys with ASD were classified into abnormal (AD-A) and normal (AD-N) mitochondrial function groups.
  • RNA sequencing (RNA-seq) was used to compare mRNA and miRNA expression between the groups.

Main Results:

  • 24 differentially expressed genes (DEGs) were identified, implicating mRNA processing, immune response, and mitochondrial/nuclear activities.
  • DEPTOR, an mTOR modulator, was upregulated in AD-A, indicating mTOR pathway dysregulation.
  • 18 differentially expressed miRNAs (DEMs) were found, with several targeting ASD-related pathways like mTOR and mitochondrial regulation.

Conclusions:

  • Molecular signatures suggest mitochondrial dysfunction in ASD is linked to mTOR and PI3K/AKT signaling disruptions.
  • A miRNA-mRNA regulatory network may underlie ASD heterogeneity and mitochondrial dysfunction.
  • Findings suggest potential for subtype-specific biomarkers and targeted therapies for ASD focusing on energy metabolism and cellular stress.