Human Blood-Derived lncRNAs in Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a complex and heterogeneous neurodevelopmental disorder with a significant impact on public health. ASD diagnosis is based on clinical observation and typically occurs around three years of age. The identification of reliable ASD markers could facilitate early diagn...

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Main Authors: Carmela Serpe, Paola De Sanctis, Marina Marini, Silvia Canaider, Provvidenza Maria Abruzzo, Cinzia Zucchini
Format: Article
Language:English
Published: MDPI AG 2025-06-01
Series:Biomolecules
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Online Access:https://www.mdpi.com/2218-273X/15/7/937
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author Carmela Serpe
Paola De Sanctis
Marina Marini
Silvia Canaider
Provvidenza Maria Abruzzo
Cinzia Zucchini
author_facet Carmela Serpe
Paola De Sanctis
Marina Marini
Silvia Canaider
Provvidenza Maria Abruzzo
Cinzia Zucchini
author_sort Carmela Serpe
collection DOAJ
description Autism spectrum disorder (ASD) is a complex and heterogeneous neurodevelopmental disorder with a significant impact on public health. ASD diagnosis is based on clinical observation and typically occurs around three years of age. The identification of reliable ASD markers could facilitate early diagnosis and help pinpoint therapeutic targets for effective interventions. Long non-coding RNAs (lncRNAs), particularly those derived from blood, have been recently proposed as potential biomarkers in many pathological conditions, including neurological diseases. This manuscript summarizes original studies examining human dysregulated blood-derived lncRNAs as potential ASD biomarkers. LncRNAs are described by grouping them according to the selection strategy used by the authors: (i) lncRNAs involved in biological processes impaired in ASD or in pathological conditions sharing the disrupted signaling pathways of ASD; and (ii) lncRNAs identified through high-throughput analysis. The study highlights key priorities for future research: assessing the ability of lncRNAs to distinguish ASD from other neurological disorders, extending analyses to larger and younger cohorts to validate candidate biomarkers in early life, and integrating multiple data sources to establish validated biomarker networks for clinical application. This review indicates that research on blood-derived lncRNAs in ASD is still in its early stages.
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spelling doaj-art-3850c46bfb014bef963f2071eadf33512025-08-20T02:45:45ZengMDPI AGBiomolecules2218-273X2025-06-0115793710.3390/biom15070937Human Blood-Derived lncRNAs in Autism Spectrum DisorderCarmela Serpe0Paola De Sanctis1Marina Marini2Silvia Canaider3Provvidenza Maria Abruzzo4Cinzia Zucchini5Department of Medical and Surgical Sciences, University of Bologna, Via Massarenti 9, 40138 Bologna, ItalyDepartment of Medical and Surgical Sciences, University of Bologna, Via Massarenti 9, 40138 Bologna, ItalyDepartment of Medical and Surgical Sciences, University of Bologna, Via Massarenti 9, 40138 Bologna, ItalyDepartment of Medical and Surgical Sciences, University of Bologna, Via Massarenti 9, 40138 Bologna, ItalyDepartment of Medical and Surgical Sciences, University of Bologna, Via Massarenti 9, 40138 Bologna, ItalyDepartment of Medical and Surgical Sciences, University of Bologna, Via Massarenti 9, 40138 Bologna, ItalyAutism spectrum disorder (ASD) is a complex and heterogeneous neurodevelopmental disorder with a significant impact on public health. ASD diagnosis is based on clinical observation and typically occurs around three years of age. The identification of reliable ASD markers could facilitate early diagnosis and help pinpoint therapeutic targets for effective interventions. Long non-coding RNAs (lncRNAs), particularly those derived from blood, have been recently proposed as potential biomarkers in many pathological conditions, including neurological diseases. This manuscript summarizes original studies examining human dysregulated blood-derived lncRNAs as potential ASD biomarkers. LncRNAs are described by grouping them according to the selection strategy used by the authors: (i) lncRNAs involved in biological processes impaired in ASD or in pathological conditions sharing the disrupted signaling pathways of ASD; and (ii) lncRNAs identified through high-throughput analysis. The study highlights key priorities for future research: assessing the ability of lncRNAs to distinguish ASD from other neurological disorders, extending analyses to larger and younger cohorts to validate candidate biomarkers in early life, and integrating multiple data sources to establish validated biomarker networks for clinical application. This review indicates that research on blood-derived lncRNAs in ASD is still in its early stages.https://www.mdpi.com/2218-273X/15/7/937long non-coding RNAlncRNAautism spectrum disorderASDbiomarkersnon-coding RNA
spellingShingle Carmela Serpe
Paola De Sanctis
Marina Marini
Silvia Canaider
Provvidenza Maria Abruzzo
Cinzia Zucchini
Human Blood-Derived lncRNAs in Autism Spectrum Disorder
Biomolecules
long non-coding RNA
lncRNA
autism spectrum disorder
ASD
biomarkers
non-coding RNA
title Human Blood-Derived lncRNAs in Autism Spectrum Disorder
title_full Human Blood-Derived lncRNAs in Autism Spectrum Disorder
title_fullStr Human Blood-Derived lncRNAs in Autism Spectrum Disorder
title_full_unstemmed Human Blood-Derived lncRNAs in Autism Spectrum Disorder
title_short Human Blood-Derived lncRNAs in Autism Spectrum Disorder
title_sort human blood derived lncrnas in autism spectrum disorder
topic long non-coding RNA
lncRNA
autism spectrum disorder
ASD
biomarkers
non-coding RNA
url https://www.mdpi.com/2218-273X/15/7/937
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AT paoladesanctis humanbloodderivedlncrnasinautismspectrumdisorder
AT marinamarini humanbloodderivedlncrnasinautismspectrumdisorder
AT silviacanaider humanbloodderivedlncrnasinautismspectrumdisorder
AT provvidenzamariaabruzzo humanbloodderivedlncrnasinautismspectrumdisorder
AT cinziazucchini humanbloodderivedlncrnasinautismspectrumdisorder