Expert Reviews in Molecular Medicine最新文献

{"title":"Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review.","authors":"Tianmi Yang, Dejiang Pang, Chunyu Li, Huifang Shang","doi":"10.1017/erm.2025.12","DOIUrl":"https://doi.org/10.1017/erm.2025.12","url":null,"abstract":"<p><strong>Background: </strong>Retinoic acid-induced 1 (<i>RAI1</i>) is a dosage-sensitive gene implicated in a range of rare neuropsychiatric diseases.</p><p><strong>Methods: </strong>This review provides a comprehensive overview of <i>RAI1's</i> role, integrating both clinical and basic research on Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) while also summarising research progress on its involvement in spinocerebellar ataxia (SCA), autism spectrum disorder (ASD), schizophrenia, bipolar disorder and major depression. A systematic review of the literature was conducted using PubMed and EMBASE, following the PRISMA guidelines, with the protocol registered in PROSPERO (CRD42023474165).</p><p><strong>Results: </strong>A total of 99 eligible studies on <i>RAI1</i> were included. We presented detailed characterisations of SMS and PTLS patients, emphasising the crucial role of <i>RAI1</i> haploinsufficiency and overexpression in their pathogenesis. Additionally, we summarised research progress on <i>RAI1</i> in SCA, ASD, schizophrenia, bipolar disorder and major depression. Integrating findings from animal studies, particularly those examining the regulatory mechanisms of <i>RAI1</i> in critical phenotypes, such as body weight, sleep and epilepsy, underscores the precise regulation of <i>RAI1</i> expression in maintaining various nervous system functions.</p><p><strong>Conclusions: </strong>Overall, this review contributes to the identification of <i>RAI1</i>-related neuropsychiatric diseases, with a particular emphasis on enhancing clinical diagnosis of SMS and PTLS in developing countries.</p>","PeriodicalId":50462,"journal":{"name":"Expert Reviews in Molecular Medicine","volume":"27 ","pages":"e17"},"PeriodicalIF":4.5,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An update on clinical and pathogenic spectra of leishmaniasis.","authors":"Angamuthu Selvapandiyan, Shital Shital, Diya A'gitok Sangma, Manju Jain, Nadira Karunaweera, Nirmal K Ganguly","doi":"10.1017/erm.2025.4","DOIUrl":"https://doi.org/10.1017/erm.2025.4","url":null,"abstract":"","PeriodicalId":50462,"journal":{"name":"Expert Reviews in Molecular Medicine","volume":" ","pages":"1-33"},"PeriodicalIF":4.5,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143755889","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advancing CRISPR genome editing into gene therapy clinical trials: progress and future prospects.","authors":"Busra Cetin, Fulya Erendor, Yunus Emre Eksi, Ahter D Sanlioglu, Salih Sanlioglu","doi":"10.1017/erm.2025.10","DOIUrl":"10.1017/erm.2025.10","url":null,"abstract":"<p><p>Genome editing has recently evolved from a theoretical concept to a powerful and versatile set of tools. The discovery and implementation of CRISPR-Cas9 technology have propelled the field further into a new era. This RNA-guided system allows for specific modification of target genes, offering high accuracy and efficiency. Encouraging results are being announced in clinical trials employed in conditions like sickle cell disease (SCD) and transfusion-dependent beta-thalassaemia (TDT). The path finally led the way to the recent FDA approval of the first gene therapy drug utilising the CRISPR/Cas9 system to edit autologous CD34+ haematopoietic stem cells in SCD patients (Casgevy). Ongoing research explores the potential of CRISPR technology for cancer therapies, HIV treatment and other complex diseases. Despite its remarkable potential, CRISPR technology faces challenges such as off-target effects, suboptimal delivery systems, long-term safety concerns, scalability, ethical dilemmas and potential repercussions of genetic alterations, particularly in the case of germline editing. Here, we examine the transformative role of CRISPR technologies, including base editing and prime editing approaches, in modifying the genetic and epigenetic codes in the human genome and provide a comprehensive focus, particularly on relevant clinical applications, to unlock the full potential and challenges of gene editing.</p>","PeriodicalId":50462,"journal":{"name":"Expert Reviews in Molecular Medicine","volume":" ","pages":"e16"},"PeriodicalIF":4.5,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12094669/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143755888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring organoid and assembloid technologies: a focus on retina and brain.","authors":"Sara Ouaidat, Alessandro Bellapianta, Franziska Ammer-Pickhardt, Tara Taghipour, Matthias Bolz, Ahmad Salti","doi":"10.1017/erm.2025.9","DOIUrl":"10.1017/erm.2025.9","url":null,"abstract":"<p><strong>Background: </strong>The recent emergence of three-dimensional organoids and their utilization as in vitro disease models confirmed the complexities behind organ-specific functions and unravelled the importance of establishing suitable human models for various applications. Also, in light of persistent challenges associated with their use, researchers have been striving to establish more advanced structures (i.e. assembloids) that can help address the limitations presented in the current organoids.</p><p><strong>Methods: </strong>In this review, we discuss the distinct organoid types that are available to date, with a special focus on retinal and brain organoids, and highlight their importance in disease modelling.</p><p><strong>Results: </strong>We refer to published research to explore the extent to which retinal and brain organoids can serve as potential alternatives to organ/cell transplants and direct our attention to the topic of photostimulation in retinal organoids. Additionally, we discuss the advantages of incorporating microfluidics and organ-on-a-chip devices for boosting retinal organoid performance. The challenges of organoids leading to the subsequent development of assembloid fusion models are also presented.</p><p><strong>Conclusion: </strong>In conclusion, organoid technology has laid the foundation for generating upgraded models that not only better replicate in vivo systems but also allow for a deeper comprehension of disease pathophysiology.</p>","PeriodicalId":50462,"journal":{"name":"Expert Reviews in Molecular Medicine","volume":" ","pages":"e14"},"PeriodicalIF":4.5,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12011387/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143722447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plant-derived products as anti-leishmanials which target mitochondria: a review.","authors":"Chandrima Shaha","doi":"10.1017/erm.2025.8","DOIUrl":"10.1017/erm.2025.8","url":null,"abstract":"<p><strong>Background: </strong>The global incidences of leishmaniasis are increasing due to changing environmental conditions and growing poverty. Leishmaniasis, caused by the <i>Leishmania</i> parasite, presents itself in six different clinical forms, the cutaneous and the visceral diseases being the most prevalent. While the cutaneous form causes disfigurement, the visceral form could be fatal if not treated. With no available vaccines combined with serious side effects of current medications and emerging drug resistance, it is crucial to discover new drugs whether as novel compounds or as repurposed existing pharmaceuticals. In the realm of drug development, mitochondria are recognized as important pharmacological targets due to their critical role in energy control, which, when disrupted, leads to irreversible cell damage. Certain plant-based compounds able to target the parasite mitochondrion, have been studied for their potential anti-leishmanial effects.</p><p><strong>Search results: </strong>These compounds have shown promising effects in eliminating the <i>Leishmania</i> parasite. Artemisinin and chloroquine, two anti-malarial drugs that target mitochondria, exert strong anti-leishmanial effectiveness in both <i>in vitro</i> cultures and <i>in vivo</i> animal models. Quinolones, coumarins and quercetin are other compounds with leishmanicidal properties, which disrupt mitochondrial activity to effectively eliminate parasites in animal models of the disease and could be considered as potential drugs.</p><p><strong>Conclusions: </strong>Therefore, plant-based compounds hold promise as potential candidates for anti-leishmanial drug development.</p>","PeriodicalId":50462,"journal":{"name":"Expert Reviews in Molecular Medicine","volume":" ","pages":"e15"},"PeriodicalIF":4.5,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12043268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143710991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel Approach Methodologies in Modeling Complex Bioaerosol Exposure in Asthma and Allergic Rhinitis Under Climate Change.","authors":"Esra Atalay-Sahar, Ece Yildiz-Ozturk, Su Ozgur, Arzu Aral, Emre Dayanc, Tuncay Goksel, Ralph Meuwissen, Ozlem Yesil-Celiktas, Ozlem Goksel","doi":"10.1017/erm.2025.7","DOIUrl":"10.1017/erm.2025.7","url":null,"abstract":"<p><p>The undeniable impact of climate change and air pollution on respiratory health has led to increasing cases of asthma, allergic rhinitis and other chronic non-communicable immune-mediated upper and lower airway diseases. Natural bioaerosols, such as pollen and fungi, are essential atmospheric components undergoing significant structural and functional changes due to industrial pollution and atmospheric warming. Pollutants like particulate matter(PMx), polycyclic aromatic hydrocarbons(PAHs), nitrogen dioxide(NO₂), sulfur dioxide(SO₂) and carbon monoxide(CO) modify the surface and biological properties of atmospheric bioaerosols such as pollen and fungi, enhancing their allergenic potentials. As a result, sensitized individuals face heightened risks of asthma exacerbation, and these alterations likely contribute to the rise in frequency and severity of allergic diseases. NAMs, such as precision-cut lung slices(PCLS), air-liquid interface(ALI) cultures and lung-on-a-chip models, along with the integration of data from these innovative models with computational models, provide better insights into how environmental factors influence asthma and allergic diseases compared to traditional models. These systems simulate the interaction between pollutants and the respiratory system with higher precision, helping to better understand the health implications of bioaerosol exposure. Additionally, NAMs improve preclinical study outcomes by offering higher throughput, reduced costs and greater reproducibility, enhancing the translation of data into clinical applications. This review critically evaluates the potential of NAMs in researching airway diseases, with a focus on allergy and asthma. It highlights their advantages in studying the increasingly complex structures of bioaerosols under conditions of environmental pollution and climate change, while also addressing the existing gaps, challenges and limitations of these models.</p>","PeriodicalId":50462,"journal":{"name":"Expert Reviews in Molecular Medicine","volume":" ","pages":"e13"},"PeriodicalIF":4.5,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11964095/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Targeting the Kynurenine Pathway: A Novel Approach in Tumor Therapy.","authors":"Shuoqi Lin, Genggeng Zheng, Yuxiang Yan, Tesen Liao, Bohua Su, Dali Zheng","doi":"10.1017/erm.2025.5","DOIUrl":"https://doi.org/10.1017/erm.2025.5","url":null,"abstract":"","PeriodicalId":50462,"journal":{"name":"Expert Reviews in Molecular Medicine","volume":" ","pages":"1-33"},"PeriodicalIF":4.5,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Review of microRNA detection workflows from liquid biopsy for disease diagnostics.","authors":"Dulguunnaran Naranbat, Emilia Herdes, Nikos Tapinos, Anubhav Tripathi","doi":"10.1017/erm.2025.2","DOIUrl":"10.1017/erm.2025.2","url":null,"abstract":"<p><p>MicroRNAs have emerged as effective biomarkers in disease diagnostics, particularly cancer, due to their role as regulatory sequences. More recently, microRNAs have been detected in liquid biopsies, which hold immense potential for early disease diagnostics. This review comprehensively analyses distinct liquid biopsy microRNA detection methods validated with clinical samples. Each step in the microRNA detection workflow, including sample collection, RNA isolation, processing, and detection of target microRNAs, has been thoroughly assessed. The review discusses the advantages and limitations of established and novel techniques in microRNA detection workflows, discussing their diagnostic capabilities and potential for future implementation at scale.</p>","PeriodicalId":50462,"journal":{"name":"Expert Reviews in Molecular Medicine","volume":" ","pages":"e11"},"PeriodicalIF":4.5,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11879380/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143257218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lactylation and human disease.","authors":"Linlin Wan, HuiJuan Zhang, Jialing Liu, Qian He, Jiumei Zhao, Chenglong Pan, Kepu Zheng, Yu Tang","doi":"10.1017/erm.2025.3","DOIUrl":"10.1017/erm.2025.3","url":null,"abstract":"<p><strong>Background: </strong>Lactylation, a new epigenetic modification, is an important way in which lactate exerts physiological functions. There is a close relationship between increased lactylations caused by lactate and glycolysis, which can interact and play a role in disease through lactate as an intermediate mediator. Current research on lactylations has focused on histone lactylation, but non-histone lactylation also has greater research potential. Due to the ubiquity of lactate modifications in mammalian cells, an increasing number of studies have found that lactate modifications play important roles in tumour cell metabolism, gene transcription and immunity.</p><p><strong>Methods: </strong>A systematic literature search was carried out using search key terms and synonyms. Full-paper screening was performed based on specific inclusion and exclusion criteria.</p><p><strong>Results: </strong>Many literatures have reported that the lactylation of protein plays an important role in human diseases and is involved in the occurrence and development of human diseases.</p><p><strong>Conclusions: </strong>This article summary the correlation between lactylation and glycolysis, histones and non-histone proteins; the relationship between lactonation modifications and tumour development; and the current existence of lactylation-related inhibitors, with a view to provide new basic research ideas and clinical therapeutic tools for lactylation-related diseases.</p>","PeriodicalId":50462,"journal":{"name":"Expert Reviews in Molecular Medicine","volume":" ","pages":"e10"},"PeriodicalIF":4.5,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11879378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081633","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systematic Review of Pre-Clinical Systems Using Artificial Microenvironments and Anti-Migratory Drugs to Control Migration of Glioblastoma Cells.","authors":"Hana Selvi, Anke Brüning-Richardson, Davide Danovi","doi":"10.1017/erm.2024.33","DOIUrl":"10.1017/erm.2024.33","url":null,"abstract":"<p><strong>Background: </strong>Glioblastoma multiforme (GBM) is the most prevalent primary brain tumour, with an incidence of 2 per 100,000. The standard clinical treatments do not sufficiently target cell migration and invasion, leading to recurrence after surgical resection and resistance after chemotherapy and radiotherapy. Pre-clinical studies are being conducted to construct artificial substrates that can mimic the tumour microenvironment (TME) to prevent GBM cells from migrating along their primary route through blood vessels and white matter tracts. Alongside, targeted therapies using anti-migratory or ‘migrastatic’ drugs are also being developed. This study aimed to review the therapeutic translational strategies emerging from the study of the GBM microenvironment and anti-migratory drugs.</p><p><strong>Methods: </strong>A systematic literature search was carried out using search key terms and synonyms. Full-paper screening was performed based on specific inclusion and exclusion criteria.</p><p><strong>Results: </strong>From the systems interrogated, the ‘Nanofibre’ assay is suitable to simulate white matter tracts, while hydrogel-based invasion assays and GBM cerebral organoid (GLICO) mimic the brain extracellular matrix. Inhibitors with anti-migratory activity found in this study are active involving distinct molecular mechanisms and have been tested on cell migration assays.</p><p><strong>Conclusion: </strong>Overall, we have analysed therapeutic strategies emerging from an artificial GBM TME approach and from the identification of anti-migratory inhibitors. Both carry potential to improve treatment options to prevent tumour dissemination and spread for GBM.</p>","PeriodicalId":50462,"journal":{"name":"Expert Reviews in Molecular Medicine","volume":"27 ","pages":"e6"},"PeriodicalIF":4.5,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11803519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}