The Contribution of Retrotransposons to the Evolution of Autism Spectrum Disorder

سال انتشار: 1402
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 40

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شناسه ملی سند علمی:

HUMS05_197

تاریخ نمایه سازی: 16 اسفند 1402

چکیده مقاله:

Introduction: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized bychallenges in social interaction, communication, and repetitive behaviors. The etiology of ASD involves acombination of genetic, environmental, and epigenetic factors. Retrotransposons as Transposable elements(TEs) are mobile DNA sequences that can move within the genome, impacting genetic variation and geneexpression. The association between ASD and TEs has attracted considerable attention in this Disorder, offeringnew insights into the genetic structure of ASD and potential therapeutic methods.In this context, recent research has uncovered a potential link between the CSDE۱ gene and autism spectrumdisorders (ASDs), shedding light on its significance in neurodevelopmental conditions. CSDE۱, also known ascold shock domain containing E۱, is a protein that plays a crucial role in post-transcriptional regulator, whichinfluences the fate of various RNAs during biological processes. Some researchers represent a significantassociation between disruptive variants of the CSDE۱ gene and autism spectrum disorder (ASD). Furthermore,it is mentioned the functional role of CSDE۱ in synapse development and synaptic transmission. In this case,some researchers indicated that retrotransposon (TE) insertions in CSDE۱ are observed only in ASD individualsand lead to loss of function in this gene. Therefore, loss of CSDE۱ is associated with an increase in neuraldifferentiation and neurogenesis.Search Method: The research is conducted based on several key databases such as PubMed, NIH, and GoogleScholar. The selection of these databases aimed to encompass a wide spectrum of studies within the medical,new sophisticated technology (whole genome sequencing), and interdisciplinary realms, ensuringcomprehensive coverage of relevant research.Conclusion: These findings emphasize the potential role of CSDE۱ as a causal gene in ASDs. Furthermore, agenome-wide association study conducted on autism has identified CSDE۱ as a candidate gene for thiscondition. In conclusion, CSDE۱ is a significant gene associated with ASD providing potential insights forfuture therapeutic interventions. Overall, the evolving understanding of the role of TEs, in the evolution of ASDand other neurological disorders highlights the potential of these elements as biomarkers and therapeutic targets.

نویسندگان

Maliheh Pirayesh Shirazinejad

Department of Biology, Faculty of Science, Ferdowsi University of Mashhad, Mashhad, Iran

Rahim Golmohammadi

Department of Anatomical Sciences, Cellular and Molecular Research Center, Sabzevar University of Medical Sciences,Sabzevar, Iran

Parisa Pour Emad

Department of Medical Sciences, School of Medicine, Sabzevar University of Medical Sciences, Sabzevar, Iran

Mohadeseh Pour Emad

Department of Medical Sciences, School of Medicine, Sabzevar University of Medical Sciences, Sabzevar, Iran

Zoha Nourani

Department of Biochemistry, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran