Serpe Carmela, De Sanctis Paola, Marini Marina, Canaider Silvia, Abruzzo Provvidenza Maria, Zucchini Cinzia
Department of Medical and Surgical Sciences, University of Bologna, Via Massarenti 9, 40138 Bologna, Italy.
Biomolecules. 2025 Jun 27;15(7):937. doi: 10.3390/biom15070937.
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.
自闭症谱系障碍（ASD）是一种复杂的异质性神经发育障碍，对公众健康有重大影响。ASD诊断基于临床观察，通常在三岁左右进行。识别可靠的ASD标志物有助于早期诊断，并有助于确定有效干预的治疗靶点。长链非编码RNA（lncRNA），特别是那些来源于血液的lncRNA，最近在包括神经疾病在内的许多病理状况中被提议作为潜在的生物标志物。本手稿总结了关于将人类失调的血液来源lncRNA作为潜在ASD生物标志物的原始研究。根据作者使用的选择策略对lncRNA进行分组描述：（i）参与ASD中受损生物过程或与ASD信号通路中断共享的病理状况中的lncRNA；（ii）通过高通量分析鉴定的lncRNA。该研究突出了未来研究的关键重点：评估lncRNA将ASD与其他神经疾病区分开来的能力，将分析扩展到更大和更年轻的队列以验证早期生命中的候选生物标志物，并整合多个数据源以建立用于临床应用的经过验证的生物标志物网络。这篇综述表明，关于ASD中血液来源lncRNA的研究仍处于早期阶段。
