Decoding the genetic landscape of autism:A comprehensive review  

作　　者：Mohammed Al-Beltagi Nermin Kamal Saeed Adel Salah Bediwy Eman A Bediwy Reem Elbeltagi 

机构地区：[1]Department of Pediatric,Faculty of Medicine,Tanta University,Alghrabia,Tanta 31511,Egypt [2]Department of Pediatric,University Medical Center,King Abdulla Medical City,Arabian Gulf University,Manama 26671,Bahrain [3]Medical Microbiology Section,Department of Pathology,Salmaniya Medical Complex,Ministry of Health,Kingdom of Bahrain,Manama 12,Bahrain [4]Medical Microbiology Section,Department of Pathology,Irish Royal College of Surgeon,Muharraq,Busaiteen 15503,Bahrain [5]Department of Pulmonology,Faculty of Medicine,Tanta University,Alghrabia,Tanta 31527,Egypt [6]Department of Pulmonology,University Medical Center,King Abdulla Medical City,Arabian Gulf University,Manama 26671,Bahrain [7]Internal Medicine,Faculty of Medicine,Tanta University,Algharbia,Tanta 31527,Egypt [8]Department of Medicine,The Royal College of Surgeons in Ireland-Bahrain,Muharraq,Busiateen 15503,Bahrain

出　　处：《World Journal of Clinical Pediatrics》2024年第3期98-136,共39页世界临床儿科杂志

摘　　要：BACKGROUND 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.AIM To explore the genetic architecture of ASD,elucidate mechanistic insights into genetic mutations,and examine gene-environment interactions.METHODS 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.RESULTS 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.CONCLUSION 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

关 键 词：Autism spectrum disorder GENETICS EPIGENETICS Clustered Regularly Interspaced Short Palindromic Repeats-Cas9 Gene-environment interactions Personalized medicine 

分 类 号：R749[医药卫生—神经病学与精神病学]