Decoding the genetic landscape of autism: A comprehensive review
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by heterogeneous symptoms and genetic underpinnings. Recent advancements in genetic and epigenetic research have provided insights into the intricate mechanisms contributing to ASD, influencing both diagnosis and...
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| Published in: | World journal of clinical pediatrics Vol. 13; no. 3; p. 98468 |
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| Main Authors: | , , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
United States
Baishideng Publishing Group Inc
09-09-2024
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| Subjects: | |
| Online Access: | Get full text |
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| Summary: | Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by heterogeneous symptoms and genetic underpinnings. Recent advancements in genetic and epigenetic research have provided insights into the intricate mechanisms contributing to ASD, influencing both diagnosis and therapeutic strategies.
To explore the genetic architecture of ASD, elucidate mechanistic insights into genetic mutations, and examine gene-environment interactions.
A comprehensive systematic review was conducted, integrating findings from studies on genetic variations, epigenetic mechanisms (such as DNA methylation and histone modifications), and emerging technologies [including Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-Cas9 and single-cell RNA sequencing]. Relevant articles were identified through systematic searches of databases such as PubMed and Google Scholar.
Genetic studies have identified numerous risk genes and mutations associated with ASD, yet many cases remain unexplained by known factors, suggesting undiscovered genetic components. Mechanistic insights into how these genetic mutations impact neural development and brain connectivity are still evolving. Epigenetic modifications, particularly DNA methylation and non-coding RNAs, also play significant roles in ASD pathogenesis. Emerging technologies like CRISPR-Cas9 and advanced bioinformatics are advancing our understanding by enabling precise genetic editing and analysis of complex genomic data.
Continued research into the genetic and epigenetic underpinnings of ASD is crucial for developing personalized and effective treatments. Collaborative efforts integrating multidisciplinary expertise and international collaborations are essential to address the complexity of ASD and translate genetic discoveries into clinical practice. Addressing unresolved questions and ethical considerations surrounding genetic research will pave the way for improved diagnostic tools and targeted therapies, ultimately enhancing outcomes for individuals affected by ASD. |
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| Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Corresponding author: Mohammed Al-Beltagi, MBChB, MD, PhD, Academic Editor, Chairman, Full Professor, Research Scientist, Department of Pediatric, Faculty of Medicine, Tanta University, Al-Bahr Street, The Medical Complex, Alghrabia, Tanta 31511, Egypt. mbelrem@hotmail.com Author contributions: Al-Biltagi M coordinated the project, contributed to the design, supervised the literature search, and ensured data integrity; Saeed NK was involved in the methodology, literature screening, data extraction, and manuscript writing; Bediwy AS participated in the literature search, data extraction, preliminary analyses, and manuscript drafting; Bediwy EA oversaw technical aspects, quality control, and statistical analysis and contributed to the manuscript, particularly in the analysis sections; Elbeltagi R addressed ethical considerations, contributed to the literature search and data extraction, and provided insights during data synthesis. All authors critically revised the manuscript and approved the final version, agreeing to be accountable for all aspects of the work. Al-Biltagi M and Saeed NK contributed equally to this work as co-first authors. Co-first authors: Mohammed Al-Beltagi and Nermin Kamal Saeed. |
| ISSN: | 2219-2808 2219-2808 |
| DOI: | 10.5409/wjcp.v13.i3.98468 |