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EmergingSystematic Review

Exosomes: New biomarker and therapeutic candidates in autism spectrum disorder research.

Acta neuropsychiatrica2025

Ünal Dilek, Sarıköse Özgüven Ayşegül

What this study means for families

Researchers reviewed studies on tiny cell particles called exosomes that might help diagnose autism earlier and develop better treatments. They found that children with autism have different substances in these particles compared to other children, including specific DNA pieces and inflammation markers. Some studies also showed promising results when using exosomes as treatments in autism mouse studies. This research could lead to better ways to identify and help children with autism.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Research summary

This systematic review examined 15 research articles investigating exosomes as potential biomarkers and therapeutic tools for autism spectrum disorder (ASD). Exosomes are small vesicles containing proteins, lipids, and nucleic acids that can be studied non-invasively. The review identified potential biomarkers in exosomal contents of ASD patients, including mitochondrial DNA (mtDNA7S), inflammatory cytokines (IL-1β, TNF-α, IL-6), and various RNA types when compared to controls. Additionally, treatment-focused studies demonstrated behavioral improvements in ASD mouse models.

The authors suggest exosome-based research offers promising avenues for early ASD diagnosis and development of personalized therapies, addressing the current lack of reliable biomarkers and effective treatments.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Key findings

  • 1

    Multiple potential biomarkers identified in exosomal contents, including mitochondrial DNA (mtDNA7S), inflammatory cytokines (IL-1β, TNF-α, IL-6), and various RNA types

    Confidence: moderateRelevance: Could enable earlier, non-invasive diagnosis of ASD
  • 2

    Behavioral improvements observed in ASD mouse models when exosome-based treatments were applied

    Confidence: limitedRelevance: Suggests potential therapeutic applications, though human studies needed
  • 3

    Exosomes can serve as non-invasive 'brain biopsy' tools for studying ASD

    Confidence: moderateRelevance: Offers safer alternative to invasive procedures for research and diagnosis

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Clinical implications

Exosome research represents a promising but early-stage approach to ASD diagnosis and treatment. While biomarker findings suggest potential for non-invasive diagnostic tools, clinical translation requires validation in larger human studies. Treatment applications remain experimental, with evidence limited to animal models requiring human trials before clinical implementation.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Limitations

Review included only 15 research articles after exclusions. No sample sizes reported for individual studies. Limited information provided about study methodologies and quality assessment. Treatment studies were primarily conducted in animal models rather than humans.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Original abstract

There is no recognised cure or specific biomarker for autism spectrum disorder (ASD). Exosomes are small vesicles that carry proteins, lipids and nucleic acids. They have been investigated for diseases such as Parkinson’s and Alzheimer’s. As the conclusions were on the biological utility of exosomes as a non-invasive brain biopsy, some animal, human and in vitro exosome studies have also been presented in the ASD field.

The purpose of this review is to compile the studies that have established a relationship between ASD and exosomes so far and discuss their potential for linking the gap between the laboratory and clinic. In this systematic review, 31 PubMed articles were identified using the keywords ‘exosomal’, ‘exosome and ‘autism spectrum disorder’. After excluding 16 reviews, 4 irrelevant studies and 1 preprint, and adding 5 relevant articles, 15 research articles were included based on PRISMA criteria. The articles were investigated and reviewed by both authors.

Their methodology and results are also discussed according to two main streams in studies. Numerous studies have identified potential biomarkers, including mitochondrial DNA (mtDNA7S), cytokines including IL-1β, TNF-α and IL-6, and different types of RNAs by comparing the exosomal contents of ASD patients or models with controls. In studies that focused on treatment, behavioural improvements were shown in ASD model mice. Since there are presently no reliable biomarkers or effective treatments for ASD, exosome-based research offers a promising avenue for early diagnosis and the creation of tailored therapies.

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Evidence Grade

Emerging

emerging

Grade assigned by AutismInsights based on study type and published abstract.

Study Details

Type
Systematic Review
Journal
Acta neuropsychiatrica
Year
2025
PMID
41267515
DOI
10.1017/neu.2025.10047

MeSH Terms

ExosomesHumansAutism Spectrum DisorderBiomarkersAnimalsMiceDisease Models, AnimalCytokinesDNA, Mitochondrial