转座因子在自闭症分子神经病理学中的调控作用。

IF 3 4区 医学 Q2 GENETICS & HEREDITY
Peerapa Techaniyom, Chawin Korsirikoon, Pitaksin Chitta, Chanachai Sae-Lee
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引用次数: 0

摘要

自闭症谱系障碍(ASD)是一种复杂的神经发育疾病,其特征是社交障碍和重复行为的存在,通常在儿童早期被诊断出来。在这篇综述中,我们检索了PubMed和谷歌Scholar数据库中的相关文章。ASD在症状上表现出相当大的异质性,在男性中更为常见,尽管人口统计学的变化表明少数民族人群的发病率正在上升。转座因子(te)约占哺乳动物基因组的50%,在包括ASD在内的神经发育障碍中发挥着越来越重要的作用。这些可移动的遗传元件可以诱导基因组不稳定并调节基因表达,从而影响ASD的病理。有证据表明,特定的te,如L1和Alu元素,可以破坏对神经发育至关重要的基因,并导致该疾病的遗传复杂性。此外,产前环境暴露可能激活TEs,可能导致ASD中观察到的神经炎症。虽然非编码te在ASD中的精确调控作用仍在研究中,需要仔细解释,但整合表观遗传衰老标记(如表观遗传时钟)有望推动该领域的发展。未来的研究重点是te、环境因素、表观遗传机制和神经发育过程之间的复杂关系,这对于确定新的生物标志物和治疗靶点,最终改善ASD的早期诊断和干预至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Regulatory roles of transposable elements on autism molecular neuropathology.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by challenges in social communication and the presence of repetitive behaviors, typically diagnosed in early childhood. In this review, we searched PubMed and Google Scholar databases for relevant articles. ASD displays considerable heterogeneity in symptomatology and is more common in males, though shifting demographics indicate rising rates among minority populations. Transposable elements (TEs), which constitute approximately 50% of the mammalian genome, are increasingly recognized for their contribution to neurodevelopmental disorders, including ASD. These mobile genetic elements can induce genomic instability and modulate gene expression, thereby influencing ASD pathology. Evidence suggests that specific TEs, such as L1 and Alu elements, can disrupt genes critical for neurodevelopment and contribute to the disorder's genetic complexity. Furthermore, prenatal environmental exposures may activate TEs, potentially contributing to neuroinflammation observed in ASD. While the precise regulatory roles of non-coding TEs in ASD are still under investigation and require careful interpretation, integrating epigenetic aging markers like epigenetic clocks holds promise for advancing the field. Future research focused on the intricate relationship between TEs, environmental factors, epigenetic mechanisms, and neurodevelopmental processes is essential for identifying novel biomarkers and therapeutic targets, ultimately improving early diagnosis and interventions for ASD.

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来源期刊
Epigenomics
Epigenomics GENETICS & HEREDITY-
CiteScore
5.80
自引率
2.60%
发文量
95
审稿时长
>12 weeks
期刊介绍: Epigenomics provides the forum to address the rapidly progressing research developments in this ever-expanding field; to report on the major challenges ahead and critical advances that are propelling the science forward. The journal delivers this information in concise, at-a-glance article formats – invaluable to a time constrained community. Substantial developments in our current knowledge and understanding of genomics and epigenetics are constantly being made, yet this field is still in its infancy. Epigenomics provides a critical overview of the latest and most significant advances as they unfold and explores their potential application in the clinical setting.
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