Global Medical Genetics最新文献

{"title":"Targeting non-coding RNAs to overcome resistance and improving outcomes in glioblastoma.","authors":"Dhruv Parikh, Manan Shah","doi":"10.1016/j.gmg.2025.100075","DOIUrl":"10.1016/j.gmg.2025.100075","url":null,"abstract":"<p><p>Glioblastoma (GB) remains the most aggressive and treatment-resistant primary brain tumor, characterized by extensive heterogeneity, therapeutic resistance, and dismal prognosis. In this comprehensive review, we aimed to synthesize emerging insights into the roles of non-coding RNAs (ncRNAs)-including microRNAs, long non-coding RNAs, circular RNAs, and PIWI-interacting RNAs-in the regulation of glioblastoma progression, resistance mechanisms, and potential therapeutic strategies. We critically evaluated the molecular functions of ncRNAs in key oncogenic processes such as proliferation, angiogenesis, epithelial-mesenchymal transition (EMT), and immune evasion. Additionally, we reviewed current detection methods, delivery technologies, and clinical trials targeting these ncRNAs. A central goal of this review was to bridge a notable gap in the literature by highlighting underrepresented ncRNA classes such as circRNAs and piRNAs, which exhibit regulatory complexity and potential as biomarkers and therapeutic agents in GB. We further discussed delivery challenges posed by the blood-brain barrier and explored promising nanocarrier and exosome-based approaches to enhance therapeutic targeting. Through curated case studies, we showcased the translational potential of targeting specific ncRNAs to reverse multiple resistance types and improve immunotherapy response. This review provides a consolidated framework for understanding the dynamic role of ncRNAs in glioblastoma and proposes an expanded toolkit for precision oncology approaches. Our findings not only underscore the therapeutic promise of ncRNAs but also call for future investigations into the lesser-known subclasses that could redefine the landscape of GB management.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"12 4","pages":"100075"},"PeriodicalIF":1.5,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12731266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145834745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"RNA binding proteins (RBPs) on genetic stability and diseases.","authors":"Abdullahi Tunde Aborode, Ohilebo Abdulateef Abass, Shaibu Nasiru, Mary Ugunnushe Eigbobo, Sumana Nefishatu, Abdullahi Idowu, Zainab Tiamiyu, Aeshah A Awaji, Nike Idowu, Babawale Roqeeb Busayo, Qasim Mehmood, Isreal Ayobami Onifade, Sodiq Fakorede, Ashraf Akintayo Akintola","doi":"10.1016/j.gmg.2024.100032","DOIUrl":"10.1016/j.gmg.2024.100032","url":null,"abstract":"<p><p>RNA-binding proteins (RBPs) are integral components of cellular machinery, playing crucial roles in the regulation of gene expression and maintaining genetic stability. Their interactions with RNA molecules govern critical processes such as mRNA splicing, stability, localization, and translation, which are essential for proper cellular function. These proteins interact with RNA molecules and other proteins to form ribonucleoprotein complexes (RNPs), hence controlling the fate of target RNAs. The interaction occurs via RNA recognition motif, the zinc finger domain, the KH domain and the double stranded RNA binding motif (all known as RNA-binding domains (RBDs). These domains are found within the coding sequences (intron and exon domains), 5' untranslated regions (5'UTR) and 3' untranslated regions (3'UTR). Dysregulation of RBPs can lead to genomic instability, contributing to various pathologies, including cancer neurodegenerative diseases, and metabolic disorders. This study comprehensively explores the multifaceted roles of RBPs in genetic stability, highlighting their involvement in maintaining genomic integrity through modulation of RNA processing and their implications in cellular signalling pathways. Furthermore, it discusses how aberrant RBP function can precipitate genetic instability and disease progression, emphasizing the therapeutic potential of targeting RBPs in restoring cellular homeostasis. Through an analysis of current literature, this study aims to delineate the critical role of RBPs in ensuring genetic stability and their promise as targets for innovative therapeutic strategies.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"12 1","pages":"100032"},"PeriodicalIF":2.1,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11803229/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic impact of copy number variations on congenital heart defects: Current insights and future directions.","authors":"Nandini Krishnamurthy, Devi Krishna, Sanjana, Jebaraj Rathinasamy, Ashok Kumar, Andrea Mary Francis","doi":"10.1016/j.gmg.2024.100008","DOIUrl":"10.1016/j.gmg.2024.100008","url":null,"abstract":"<p><p>Congenital heart defects (CHDs) are the most prevalent congenital abnormalities, and they are commonly associated with genetic alterations, namely copy number variants. CNVs, which are duplications or deletions of DNA sequences, can disrupt gene regulation, impact dosage-sensitive genes, and cause loss-of-function mutations, all of which can interfere with heart development. CNVs cause genomic instability by changing essential genes, which plays an important role in the pathophysiology of CHDs. Detecting these variants is critical for better understanding the genetic causes of these abnormalities and improving patient outcomes. Advanced genetic testing tools aid in detecting CNVs linked to CHDs. Multiplex Ligation-Dependent Probe Amplification (MLPA), High-throughput Ligation-Dependent Probe Amplification (HLPA), Whole Exome Sequencing (WES), Chromosomal Microarray Analysis (CMA), and CNV-specific sequencing (CNV-seq) have all greatly improved the detection of these variants. Furthermore, whole genome sequencing (WGS) has emerged as a potent method for detecting CNVs on a wide scale, allowing for earlier diagnosis and more effective treatment planning. Therefore, this review focuses on the rising significance of CNV research in congenital heart defects, emphasizing on how genetic differences might lead to improved diagnostic and treatment options. By combining genomic technologies, researchers and clinicians can gain a better understanding of the function of CNVs in CHDs, opening the door for personalised therapy.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"12 1","pages":"100008"},"PeriodicalIF":2.1,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11800308/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of the Plasminogen Activator Inhibitor 1 ( <i>PAI1</i> ) in Ovarian Cancer: Mechanisms and Therapeutic Implications.","authors":"Sneha Grace Mathews, R B Devi Krishna, Lavanya M, Nandini K, Sanjana Murali, Preet Agarwal, Elizabeth Rani, Andrea Mary F","doi":"10.1055/s-0044-1791734","DOIUrl":"10.1055/s-0044-1791734","url":null,"abstract":"<p><p>Ovarian cancer (OC) is one among most significantly fatal gynecological cancers, with late-stage detection and an inadequate prognosis. Plasminogen activator inhibitor-1 ( <i>PAI1</i> ) gene anticipates negative outcomes in many different kinds of malignancies. Several research investigations are currently being done to examine the biological role of <i>PAI1</i> in OC and the possible benefits of targeted pharmacotherapies. The <i>PAI1</i> gene has been linked to the emergence and development of cancer in the ovary. <i>PAI1</i> , an inhibitor of serine protease, influences the fibrinolysis and extracellular matrix remodeling, both of which are crucial for tumor expansion and metastatic growth. <i>PAI1</i> levels have been discovered to be subsequently more elevated in malignant ovarian tissues than in usual ovarian tissue, demonstrating a potential connection among <i>PAI1</i> overexpression and OC development. <i>PAI1</i> promotes tumor cell proliferation, movement, and an invasion by influencing the urokinase-plasminogen activators and through interactions with cell surface receptors. In addition, <i>PAI1</i> gene contributes to angiogenesis and apoptotic cell death, which contribute to the more hostile phenotypes of OC. The prognostic and therapeutic consequences of focusing on <i>PAI1</i> in OC are explored, demonstrating <i>PAI1</i> 's potential to be a biomarker and emphasizing for novel treatment approaches. The <i>PAI1</i> gene possesses several functions in OC, affecting tumor development, an invasion, and metastatic growth. Comprehending the complicated interactions and mechanisms that regulate <i>PAI1</i> in OC may lead to more efficient evaluation and treatment strategies and ultimately enhance patient outcomes.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"11 4","pages":"358-365"},"PeriodicalIF":1.5,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11521755/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142711253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of CRISPR/Cas9 in Revolutionizing Duchenne's Muscular Dystrophy Treatment: Opportunities and Obstacles.","authors":"Ahsan Ali, Md Yakeen Rahman, Danish Sheikh","doi":"10.1055/s-0044-1791803","DOIUrl":"10.1055/s-0044-1791803","url":null,"abstract":"<p><p>Duchenne's muscular dystrophy (DMD) is a severe X-linked disorder characterized by progressive muscle degeneration, leading to loss of ambulation, respiratory failure, and premature death. It affects approximately 1 in 3,500 live male births and is caused by mutations in the dystrophin gene, which impairs muscle fiber stability. Current treatments are limited to managing symptoms and slowing disease progression, with no curative therapies available. The advent of CRISPR/Cas9 gene-editing technology has introduced a promising approach for directly correcting the genetic mutations responsible for DMD. This review explores the potential of CRISPR/Cas9 as a transformative therapy for DMD, highlighting its successes in preclinical models, the challenges associated with its delivery, and the obstacles to its clinical application. While preclinical studies demonstrate the efficacy of CRISPR/Cas9 in restoring dystrophin expression and improving muscle function, significant hurdles remain, including optimizing delivery methods and ensuring long-term safety.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"11 4","pages":"349-357"},"PeriodicalIF":1.5,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489040/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142711274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report: Alpha6 Integrin Disorder Presenting in Childhood with Nail Dysplasia and Onycholysis But No History of Fragile or Bullous Skin Changes.","authors":"Alayna N Zalesny, Sarah Gunter, Charles A Williams","doi":"10.1055/s-0044-1791804","DOIUrl":"10.1055/s-0044-1791804","url":null,"abstract":"<p><p>We report a 7-year-old girl born with pyloric atresia but without congenital epidermolysis bullosa or skin fragility. Nail dysplasia developed at age 8 months and throughout childhood she suffered from onycholysis and mild nail hypertrophy. Whole-exome sequencing demonstrated biallelic mutations in alpha6 integrin (ITGA6): p. Q139* and R153W. ITGA6 normally forms a protein heterodimer with beta4 integrin (ITGB4), and this dimer participates in anchoring the basal skin cells to the extracellular matrix. Biallelic mutations in each gene are well known to cause epidermolysis bullosa and pyloric atresia. However, this child had ostensibly normal skin without any evidence of skin fragility. In a literature search, we identified 11 cases involving ITGA6 mutations, and all had epidermolysis skin changes. Thus, this case adds to the reported phenotype of ITGA6 disease since it is the first to show absence of an epidermolysis bullosa phenotype in the setting of pyloric atresia and nail dysplasia.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"11 4","pages":"344-348"},"PeriodicalIF":1.5,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11485621/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142711267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genomic Landscape Features of Minimally Invasive Adenocarcinoma and Invasive Lung Adenocarcinoma.","authors":"Wei Zhang, Hui Xu, Ning Tang, Shuang Han, Hongyan Shu","doi":"10.1055/s-0044-1791198","DOIUrl":"10.1055/s-0044-1791198","url":null,"abstract":"<p><p><b>Background</b>  The widespread implementation of computed tomography has significantly increased the detection of small pulmonary nodules, including atypical adenomatous hyperplasia, minimally invasive adenocarcinoma (MIA), and invasive adenocarcinoma (IAC). Few studies have focused on the genomic differences between MIA and IAC. <b>Methods</b>  We retrospectively analyzed patients with lung adenocarcinoma (LUAD) who underwent surgery from January 2020 to December 2023. Patients were categorized into MIA and IAC groups. The mutation status of common driver genes was assessed using next-generation sequencing. <b>Results</b>  A total of 422 LUAD patients were included in the study, comprising 119 MIA cases and 303 IAC cases. MIA patients were younger and predominantly female compared with IAC patients. EGFR mutations were detected in 251 patients (59.5%), with the frequency of EGFR mutations increasing from 37.0% in MIA to 68.3% in IAC ( <i>p</i>  < 0.001). TP53 mutations were found in 108 patients (25.6%), with 7 patients (5.9%) in MIA and 101 patients (33.3%) in IAC ( <i>p</i>  < 0.001). ERBB2 mutations were identified in 23 MIA patients (19.3%) and 20 IAC patients (6.6%) ( <i>p</i>  < 0.001). Additionally, CDKN2A mutations were detected in 23 IAC patients (7.6%), while no mutations in this gene were found in the MIA group. Moreover, ALK and RET gene fusions were identified in 11 patients, respectively. <b>Conclusion</b>  ERBB2 mutations and RET fusions are early genomic events in LUAD, while TP53 and CDKN2A mutations and ALK fusions occur later. Genomic intratumor heterogeneity likely arises early, before invasive characteristics develop.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"11 4","pages":"312-318"},"PeriodicalIF":1.5,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11412754/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142711270","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mechanism of Genome Editing Tools and Their Application on Genetic Inheritance Disorders.","authors":"Dae Hwan Oh","doi":"10.1055/s-0044-1790558","DOIUrl":"10.1055/s-0044-1790558","url":null,"abstract":"<p><p>In the fields of medicine and bioscience, gene editing is increasingly recognized as a promising therapeutic approach for treating pathogenic variants in humans and other living organisms. With advancements in technology and knowledge, it is now understood that most genetic defects are caused by single-base pair variants. The ability to substitute genes using genome editing tools enables scientists and doctors to cure genetic diseases and disorders. Starting with CRISPR (clustered regularly interspaced short palindromic repeats)/Cas, the technology has evolved to become more efficient and safer, leading to the development of base and prime editors. Furthermore, various approaches are used to treat genetic disorders such as hemophilia, cystic fibrosis, and Duchenne muscular dystrophy. As previously mentioned, most genetic defects leading to specific diseases are caused by single-base pair variants, which can occur at many locations in corresponding gene, potentially causing the same disease. This means that, even when using the same genome editing tool, results in terms of editing efficiency or treatment effectiveness may differ. Therefore, different approaches may need to be applied to different types of diseases. Prevalently, due to the safety of adeno-associated virus (AAV) vectors in gene therapy, most clinical trials of gene therapy are based on AAV delivery methods. However, despite their safety and nonintegration into the host genome, their limitations, such as confined capacity, dosage-dependent viral toxicity, and immunogenicity, necessitate the development of new approaches to enhance treatment effects. This review provides the structure and function of each CRISPR-based gene editing tool and focuses on introducing new approaches in gene therapy associated with improving treatment efficiency.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"11 4","pages":"319-329"},"PeriodicalIF":1.5,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11405120/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142711272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expert Consensus on the Diagnosis and Treatment of FGFR Gene-Altered Solid Tumors.","authors":"Chunwei Xu, Bin Lian, Juanjuan Ou, Qian Wang, Wenxian Wang, Ke Wang, Dong Wang, Zhengbo Song, Aijun Liu, Jinpu Yu, Wenzhao Zhong, Zhijie Wang, Yongchang Zhang, Jingjing Liu, Shirong Zhang, Xiuyu Cai, Anwen Liu, Wen Li, Lili Mao, Ping Zhan, Hongbing Liu, Tangfeng Lv, Liyun Miao, Lingfeng Min, Yu Chen, Jingping Yuan, Feng Wang, Zhansheng Jiang, Gen Lin, Long Huang, Xingxiang Pu, Rongbo Lin, Weifeng Liu, Chuangzhou Rao, Dongqing Lv, Zongyang Yu, Xiaoyan Li, Chuanhao Tang, Chengzhi Zhou, Junping Zhang, Junli Xue, Hui Guo, Qian Chu, Rui Meng, Jingxun Wu, Rui Zhang, Jin Zhou, Zhengfei Zhu, Yongheng Li, Hong Qiu, Fan Xia, Yuanyuan Lu, Xiaofeng Chen, Rui Ge, Enyong Dai, Yu Han, Weiwei Pan, Fei Pang, Jintao Huang, Kai Wang, Fan Wu, Bingwei Xu, Liping Wang, Youcai Zhu, Li Lin, Yanru Xie, Xinqing Lin, Jing Cai, Ling Xu, Jisheng Li, Xiaodong Jiao, Kainan Li, Jia Wei, Huijing Feng, Lin Wang, Yingying Du, Wang Yao, Xuefei Shi, Xiaomin Niu, Dongmei Yuan, Yanwen Yao, Jianhui Huang, Yue Feng, Yinbin Zhang, Pingli Sun, Hong Wang, Mingxiang Ye, Zhaofeng Wang, Yue Hao, Zhen Wang, Bin Wan, Donglai Lv, Zhanqiang Zhai, Shengjie Yang, Jing Kang, Jiatao Zhang, Chao Zhang, Lin Shi, Yina Wang, Bihui Li, Zhang Zhang, Zhongwu Li, Zhefeng Liu, Nong Yang, Lin Wu, Huijuan Wang, Gu Jin, Guansong Wang, Jiandong Wang, Meiyu Fang, Yong Fang, Yuan Li, Xiaojia Wang, Jing Chen, Yiping Zhang, Xixu Zhu, Yi Shen, Shenglin Ma, Biyun Wang, Lu Si, Yuanzhi Lu, Ziming Li, Wenfeng Fang, Yong Song","doi":"10.1055/s-0044-1790230","DOIUrl":"10.1055/s-0044-1790230","url":null,"abstract":"<p><p>The fibroblast growth factor receptor (FGFR) is a crucial receptor tyrosine kinase involved in essential biological processes, including growth, development, and tissue repair. However, FGFR gene mutations, including amplification, fusion, and mutation, can disrupt epigenetics, transcriptional regulation, and tumor microenvironment interactions, leading to cancer development. Targeting these kinase mutations with small molecule drugs or antibodies has shown clinical benefits. For example, erdafitinib is approved for treating locally advanced or metastatic urothelial cancer patients with FGFR2/FGFR3 mutations, and pemigatinib is approved for treating cholangiocarcinoma with FGFR2 fusion/rearrangement. Effective screening of FGFR variant patients is crucial for the clinical application of FGFR inhibitors. Various detection methods, such as polymerase chain reaction, next-generation sequencing, fluorescence in situ hybridization, and immunohistochemistry, are available, and their selection should be based on diagnostic and treatment decision-making needs. Our developed expert consensus aims to standardize the diagnosis and treatment process for FGFR gene mutations and facilitate the practical application of FGFR inhibitors in clinical practice.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"11 4","pages":"330-343"},"PeriodicalIF":1.5,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11405117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142711268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of Noncoding RNAs in Modulating Microglial Phenotype.","authors":"Eiman Meer","doi":"10.1055/s-0044-1790283","DOIUrl":"10.1055/s-0044-1790283","url":null,"abstract":"<p><p>Microglia are immunocompetent cells that are present in the retina and central nervous system, and are involved in the development maintenance and immune functions in these systems. Developing from yolk sac-primitive macrophages, they proliferate in the local tissues during the embryonic period without resorting to the production from the hematopoietic stem cells, and are critical in sustaining homeostasis and performing in disease and injury; they have morphological characteristics and distinct phenotypes according to the microenvironment. Microglia are also present in close association with resident cells in the retina where they engage in synapse formation, support normal functions, as well as immune defense. They are involved in the development of numerous neurodegenerative and ophthalmic diseases and act as diversity shields and triggers. Noncoding ribonucleic acids (ncRNAs) refer to RNA molecules synthesized from the mammalian genome, and these do not have protein-coding capacity. These ncRNAs play a role in the regulation of gene expression patterns. ncRNAs have only been recently identified as vastly significant molecules that are involved in the posttranscriptional regulation. Microglia are crucial for brain health and functions and current studies have focused on the effects caused by ncRNA on microglial types. Thus, the aim of the review was to provide an overview of the current knowledge about the regulation of microglial phenotypes by ncRNAs.</p>","PeriodicalId":40142,"journal":{"name":"Global Medical Genetics","volume":"11 4","pages":"304-311"},"PeriodicalIF":1.5,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11383642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142297928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}