WIREs Mechanisms of Disease最新文献

Uncovering the Embryonic Origins of Duchenne Muscular Dystrophy. 揭示杜兴氏肌肉萎缩症的胚胎起源。

IF 5.4 3区医学

WIREs Mechanisms of Disease Pub Date : 2024-11-01 Epub Date: 2024-10-23 DOI: 10.1002/wsbm.1653

Philip Barrett, Ke'ale W Louie, Jean-Baptiste Dupont, David L Mack, Lisa Maves

{"title":"Uncovering the Embryonic Origins of Duchenne Muscular Dystrophy.","authors":"Philip Barrett, Ke'ale W Louie, Jean-Baptiste Dupont, David L Mack, Lisa Maves","doi":"10.1002/wsbm.1653","DOIUrl":"10.1002/wsbm.1653","url":null,"abstract":"Duchenne muscular dystrophy (DMD) is a severe degenerative muscle disease caused by mutations in the DMD gene, which encodes dystrophin. Despite its initial description in the late 19th century by French neurologist Guillaume Duchenne de Boulogne, and identification of causal DMD genetic mutations in the 1980s, therapeutics remain challenging. The current standard of care is corticosteroid treatment, which delays the progression of muscle dysfunction but is associated with significant adverse effects. Emerging therapeutic approaches, including AAV-mediated gene transfer, CRISPR gene editing, and small molecule interventions, are under development but face considerable obstacles. Although DMD is viewed as a progressive muscle disease, muscle damage and abnormal molecular signatures are already evident during fetal myogenesis. This early onset of pathology suggests that the limited success of current therapies may partly be due to their administration after aberrant embryonic myogenesis has occurred in the absence of dystrophin. Consequently, identifying optimal therapeutic strategies and intervention windows for DMD may depend on a better understanding of the earliest DMD disease mechanisms. As newer techniques are applied, the field is gaining increasingly detailed insights into the early muscle developmental abnormalities in DMD. A comprehensive understanding of the initial events in DMD pathogenesis and progression will facilitate the generation and testing of effective therapeutic interventions.","PeriodicalId":29896,"journal":{"name":"WIREs Mechanisms of Disease","volume":" ","pages":"e1653"},"PeriodicalIF":5.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11563919/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142509382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

SLC40A1 in iron metabolism, ferroptosis, and disease: A review. 铁代谢、铁变态反应和疾病中的 SLC40A1：综述。

IF 4.6 3区医学

WIREs Mechanisms of Disease Pub Date : 2024-07-01 Epub Date: 2024-03-20 DOI: 10.1002/wsbm.1644

Yan Zhang, Liyi Zou, Xiaodan Li, Long Guo, Baoguang Hu, Hua Ye, Yi Liu

引用次数: 0

Advances in understanding immune homeostasis in latent tuberculosis infection. 在了解潜伏结核感染的免疫稳态方面取得的进展。

IF 4.6 3区医学

WIREs Mechanisms of Disease Pub Date : 2024-07-01 Epub Date: 2024-02-13 DOI: 10.1002/wsbm.1643

Liangfei Niu, Hao Wang, Geyang Luo, Jing Zhou, Zhidong Hu, Bo Yan

{"title":"Advances in understanding immune homeostasis in latent tuberculosis infection.","authors":"Liangfei Niu, Hao Wang, Geyang Luo, Jing Zhou, Zhidong Hu, Bo Yan","doi":"10.1002/wsbm.1643","DOIUrl":"10.1002/wsbm.1643","url":null,"abstract":"Nearly one-fourth of the global population is infected by Mycobacterium tuberculosis (Mtb), and approximately 90%-95% remain asymptomatic as latent tuberculosis infection (LTBI), an estimated 5%-10% of those with latent infections will eventually progress to active tuberculosis (ATB). Although it is widely accepted that LTBI transitioning to ATB results from a disruption of host immune balance and a weakening of protective immune responses, the exact underlying immunological mechanisms that promote this conversion are not well characterized. Thus, it is difficult to accurately predict tuberculosis (TB) progression in advance, leaving the LTBI population as a significant threat to TB prevention and control. This article systematically explores three aspects related to the immunoregulatory mechanisms and translational research about LTBI: (1) the distinct immunocytological characteristics of LTBI and ATB, (2) LTBI diagnostic markers discovery related to host anti-TB immunity and metabolic pathways, and (3) vaccine development focus on LTBI. This article is categorized under: Infectious Diseases > Molecular and Cellular Physiology Infectious Diseases > Genetics/Genomics/Epigenetics Immune System Diseases > Genetics/Genomics/Epigenetics.","PeriodicalId":29896,"journal":{"name":"WIREs Mechanisms of Disease","volume":" ","pages":"e1643"},"PeriodicalIF":4.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139730560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The intersection of virus infection and liver disease: A comprehensive review of pathogenesis, diagnosis, and treatment. 病毒感染与肝病的交集：全面回顾发病机制、诊断和治疗。

IF 4.6 3区医学

WIREs Mechanisms of Disease Pub Date : 2024-05-01 Epub Date: 2024-01-22 DOI: 10.1002/wsbm.1640

Meng Ren, Chenxia Lu, Mingwei Zhou, Xiaobing Jiang, Xiaodong Li, Ningning Liu

{"title":"The intersection of virus infection and liver disease: A comprehensive review of pathogenesis, diagnosis, and treatment.","authors":"Meng Ren, Chenxia Lu, Mingwei Zhou, Xiaobing Jiang, Xiaodong Li, Ningning Liu","doi":"10.1002/wsbm.1640","DOIUrl":"10.1002/wsbm.1640","url":null,"abstract":"Liver disease represents a significant global burden, placing individuals at a heightened risk of developing cirrhosis and liver cancer. Viral infections act as a primary cause of liver diseases on a worldwide scale. Infections involving hepatitis viruses, notably hepatitis B, C, and E viruses, stand out as the most prevalent contributors to acute and chronic intrahepatic adverse outcome, although the hepatitis C virus (HCV) can be effectively cured with antiviral drugs, but no preventative vaccination developed. Hepatitis B virus (HBV) and HCV can lead to both acute and chronic liver diseases, including liver cirrhosis and hepatocellular carcinoma (HCC), which are principal causes of worldwide morbidity and mortality. Other viruses, such as Epstein-Barr virus (EBV) and cytomegalovirus (CMV), are capable of causing liver damage. Therefore, it is essential to recognize that virus infections and liver diseases are intricate and interconnected processes. A profound understanding of the underlying relationship between virus infections and liver diseases proves pivotal in the effective prevention, diagnosis, and treatment of these conditions. In this review, we delve into the mechanisms by which virus infections induce liver diseases, as well as explore the pathogenesis, diagnosis, and treatment of liver diseases. This article is categorized under: Infectious Diseases > Biomedical Engineering.","PeriodicalId":29896,"journal":{"name":"WIREs Mechanisms of Disease","volume":" ","pages":"e1640"},"PeriodicalIF":4.6,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139521567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Review of cardiac-coronary interaction and insights from mathematical modeling. 回顾心脏与冠状动脉的相互作用以及数学建模的启示。

IF 4.6 3区医学

WIREs Mechanisms of Disease Pub Date : 2024-05-01 Epub Date: 2024-02-05 DOI: 10.1002/wsbm.1642

Lei Fan, Haifeng Wang, Ghassan S Kassab, Lik Chuan Lee

{"title":"Review of cardiac-coronary interaction and insights from mathematical modeling.","authors":"Lei Fan, Haifeng Wang, Ghassan S Kassab, Lik Chuan Lee","doi":"10.1002/wsbm.1642","DOIUrl":"10.1002/wsbm.1642","url":null,"abstract":"Cardiac-coronary interaction is fundamental to the function of the heart. As one of the highest metabolic organs in the body, the cardiac oxygen demand is met by blood perfusion through the coronary vasculature. The coronary vasculature is largely embedded within the myocardial tissue which is continually contracting and hence squeezing the blood vessels. The myocardium-coronary vessel interaction is two-ways and complex. Here, we review the different types of cardiac-coronary interactions with a focus on insights gained from mathematical models. Specifically, we will consider the following: (1) myocardial-vessel mechanical interaction; (2) metabolic-flow interaction and regulation; (3) perfusion-contraction matching, and (4) chronic interactions between the myocardium and coronary vasculature. We also provide a discussion of the relevant experimental and clinical studies of different types of cardiac-coronary interactions. Finally, we highlight knowledge gaps, key challenges, and limitations of existing mathematical models along with future research directions to understand the unique myocardium-coronary coupling in the heart. This article is categorized under: Cardiovascular Diseases > Computational Models Cardiovascular Diseases > Biomedical Engineering Cardiovascular Diseases > Molecular and Cellular Physiology.","PeriodicalId":29896,"journal":{"name":"WIREs Mechanisms of Disease","volume":" ","pages":"e1642"},"PeriodicalIF":4.6,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11081852/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139693149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The yeast-human coevolution: Fungal transition from passengers, colonizers, and invaders. 酵母菌与人类的共同进化：真菌从旅客、殖民者到入侵者的转变。

IF 3.1 3区医学

WIREs Mechanisms of Disease Pub Date : 2024-05-01 Epub Date: 2023-12-26 DOI: 10.1002/wsbm.1639

Stefano Nenciarini, Sonia Renzi, Monica di Paola, Niccolò Meriggi, Duccio Cavalieri

{"title":"The yeast-human coevolution: Fungal transition from passengers, colonizers, and invaders.","authors":"Stefano Nenciarini, Sonia Renzi, Monica di Paola, Niccolò Meriggi, Duccio Cavalieri","doi":"10.1002/wsbm.1639","DOIUrl":"10.1002/wsbm.1639","url":null,"abstract":"Fungi are the cause of more than a billion infections in humans every year, although their interactions with the host are still neglected compared to bacteria. Major systemic fungal infections are very unusual in the healthy population, due to the long history of coevolution with the human host. Humans are routinely exposed to environmental fungi and can host a commensal mycobiota, which is increasingly considered as a key player in health and disease. Here, we review the current knowledge on host-fungi coevolution and the factors that regulate their interaction. On one hand, fungi have learned to survive and inhabit the host organisms as a natural ecosystem, on the other hand, the host immune system finely tunes the response toward fungi. In turn, recognition of fungi as commensals or pathogens regulates the host immune balance in health and disease. In the human gut ecosystem, yeasts provide a fingerprint of the transient microbiota. Their status as passengers or colonizers is related to the integrity of the gut barrier and the risk of multiple disorders. Thus, the study of this less known component of the microbiota could unravel the rules of the transition from passengers to colonizers and invaders, as well as their dependence on the innate component of the host's immune response. This article is categorized under: Infectious Diseases > Environmental Factors Immune System Diseases > Environmental Factors Infectious Diseases > Molecular and Cellular Physiology.","PeriodicalId":29896,"journal":{"name":"WIREs Mechanisms of Disease","volume":" ","pages":"e1639"},"PeriodicalIF":3.1,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139037984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Ascomycetes yeasts: The hidden part of human microbiome. 子囊菌酵母：人类微生物组的隐藏部分

IF 4.6 3区医学

WIREs Mechanisms of Disease Pub Date : 2024-05-01 Epub Date: 2024-01-16 DOI: 10.1002/wsbm.1641

Stefano Nenciarini, Sonia Renzi, Monica di Paola, Niccolò Meriggi, Duccio Cavalieri

{"title":"Ascomycetes yeasts: The hidden part of human microbiome.","authors":"Stefano Nenciarini, Sonia Renzi, Monica di Paola, Niccolò Meriggi, Duccio Cavalieri","doi":"10.1002/wsbm.1641","DOIUrl":"10.1002/wsbm.1641","url":null,"abstract":"The fungal component of the microbiota, the mycobiota, has been neglected for a long time due to its poor richness compared to bacteria. Limitations in fungal detection and taxonomic identification arise from using metagenomic approaches, often borrowed from bacteriome analyses. However, the relatively recent discoveries of the ability of fungi to modulate the host immune response and their involvement in human diseases have made mycobiota a fundamental component of the microbial communities inhabiting the human host, deserving some consideration in host-microbe interaction studies and in metagenomics. Here, we reviewed recent data on the identification of yeasts of the Ascomycota phylum across human body districts, focusing on the most representative genera, that is, Saccharomyces and Candida. Then, we explored the key factors involved in shaping the human mycobiota across the lifespan, ranging from host genetics to environment, diet, and lifestyle habits. Finally, we discussed the strengths and weaknesses of culture-dependent and independent methods for mycobiota characterization. Overall, there is still room for some improvements, especially regarding fungal-specific methodological approaches and bioinformatics challenges, which are still critical steps in mycobiota analysis, and to advance our knowledge on the role of the gut mycobiota in human health and disease. This article is categorized under: Immune System Diseases > Genetics/Genomics/Epigenetics Immune System Diseases > Environmental Factors Infectious Diseases > Environmental Factors.","PeriodicalId":29896,"journal":{"name":"WIREs Mechanisms of Disease","volume":" ","pages":"e1641"},"PeriodicalIF":4.6,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139478834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Let's talk about sex: Mechanisms of neural sexual differentiation in Bilateria. 让我们来谈谈性：双尾目动物神经性分化的机制

IF 3.1 3区医学

WIREs Mechanisms of Disease Pub Date : 2024-03-01 Epub Date: 2024-01-07 DOI: 10.1002/wsbm.1636

Emma C Roggenbuck, Elijah A Hall, Isabel B Hanson, Alyssa A Roby, Katherine K Zhang, Kyle A Alkatib, Joseph A Carter, Jarred E Clewner, Anna L Gelfius, Shiyuan Gong, Finley R Gordon, Jolene N Iseler, Samhita Kotapati, Marilyn Li, Areeba Maysun, Elise O McCormick, Geetanjali Rastogi, Srijani Sengupta, Chantal U Uzoma, Madison A Wolkov, E Josephine Clowney

{"title":"Let's talk about sex: Mechanisms of neural sexual differentiation in Bilateria.","authors":"Emma C Roggenbuck, Elijah A Hall, Isabel B Hanson, Alyssa A Roby, Katherine K Zhang, Kyle A Alkatib, Joseph A Carter, Jarred E Clewner, Anna L Gelfius, Shiyuan Gong, Finley R Gordon, Jolene N Iseler, Samhita Kotapati, Marilyn Li, Areeba Maysun, Elise O McCormick, Geetanjali Rastogi, Srijani Sengupta, Chantal U Uzoma, Madison A Wolkov, E Josephine Clowney","doi":"10.1002/wsbm.1636","DOIUrl":"10.1002/wsbm.1636","url":null,"abstract":"In multicellular organisms, sexed gonads have evolved that facilitate release of sperm versus eggs, and bilaterian animals purposefully combine their gametes via mating behaviors. Distinct neural circuits have evolved that control these physically different mating events for animals producing eggs from ovaries versus sperm from testis. In this review, we will describe the developmental mechanisms that sexually differentiate neural circuits across three major clades of bilaterian animals-Ecdysozoa, Deuterosomia, and Lophotrochozoa. While many of the mechanisms inducing somatic and neuronal sex differentiation across these diverse organisms are clade-specific rather than evolutionarily conserved, we develop a common framework for considering the developmental logic of these events and the types of neuronal differences that produce sex-differentiated behaviors. This article is categorized under: Congenital Diseases > Stem Cells and Development Neurological Diseases > Stem Cells and Development.","PeriodicalId":29896,"journal":{"name":"WIREs Mechanisms of Disease","volume":" ","pages":"e1636"},"PeriodicalIF":3.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139378430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Computational modeling of angiogenesis: The importance of cell rearrangements during vascular growth. 血管生成的计算模型：血管生长过程中细胞重排的重要性

IF 3.1 3区医学

WIREs Mechanisms of Disease Pub Date : 2024-03-01 Epub Date: 2023-12-12 DOI: 10.1002/wsbm.1634

Daria Stepanova, Helen M Byrne, Philip K Maini, Tomás Alarcón

{"title":"Computational modeling of angiogenesis: The importance of cell rearrangements during vascular growth.","authors":"Daria Stepanova, Helen M Byrne, Philip K Maini, Tomás Alarcón","doi":"10.1002/wsbm.1634","DOIUrl":"10.1002/wsbm.1634","url":null,"abstract":"Angiogenesis is the process wherein endothelial cells (ECs) form sprouts that elongate from the pre-existing vasculature to create new vascular networks. In addition to its essential role in normal development, angiogenesis plays a vital role in pathologies such as cancer, diabetes and atherosclerosis. Mathematical and computational modeling has contributed to unraveling its complexity. Many existing theoretical models of angiogenic sprouting are based on the \"snail-trail\" hypothesis. This framework assumes that leading ECs positioned at sprout tips migrate toward low-oxygen regions while other ECs in the sprout passively follow the leaders' trails and proliferate to maintain sprout integrity. However, experimental results indicate that, contrary to the snail-trail assumption, ECs exchange positions within developing vessels, and the elongation of sprouts is primarily driven by directed migration of ECs. The functional role of cell rearrangements remains unclear. This review of the theoretical modeling of angiogenesis is the first to focus on the phenomenon of cell mixing during early sprouting. We start by describing the biological processes that occur during early angiogenesis, such as phenotype specification, cell rearrangements and cell interactions with the microenvironment. Next, we provide an overview of various theoretical approaches that have been employed to model angiogenesis, with particular emphasis on recent in silico models that account for the phenomenon of cell mixing. Finally, we discuss when cell mixing should be incorporated into theoretical models and what essential modeling components such models should include in order to investigate its functional role. This article is categorized under: Cardiovascular Diseases > Computational Models Cancer > Computational Models.","PeriodicalId":29896,"journal":{"name":"WIREs Mechanisms of Disease","volume":" ","pages":"e1634"},"PeriodicalIF":3.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138810544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Appropriate patient population for future visual system axon regeneration therapies. 未来视觉系统轴突再生疗法的适当患者人群。

IF 3.1 3区医学

WIREs Mechanisms of Disease Pub Date : 2024-03-01 Epub Date: 2023-12-13 DOI: 10.1002/wsbm.1637

Sanjoy K Bhattacharya, Chrisfouad Raif Alabiad, Krishna Kishor

{"title":"Appropriate patient population for future visual system axon regeneration therapies.","authors":"Sanjoy K Bhattacharya, Chrisfouad Raif Alabiad, Krishna Kishor","doi":"10.1002/wsbm.1637","DOIUrl":"10.1002/wsbm.1637","url":null,"abstract":"A number of blinding diseases caused by damage to the optic nerve result in progressive vision loss or loss of visual acuity. Secondary glaucoma results from traumatic injuries, pseudoexfoliation or pigmentary dispersion syndrome. Progressive peripheral vision loss is common to all secondary glaucoma irrespective of the initial event. Axon regeneration is a potential therapeutic avenue to restore lost vision in these patients. In contrast to the usual approach of having the worst possible patient population for initial therapies, axon regeneration may require consideration of appropriate patient population even for initial treatment trials. The current state of axon regeneration therapies, their potential future and suitable patient population when ready is discussed in this perspective. The selection of patients are important for adoption of axon regeneration specifically in the areas of central nervous system regenerative medicine. This article is categorized under: Neurological Diseases > Molecular and Cellular Physiology Neurological Diseases > Biomedical Engineering Metabolic Diseases > Molecular and Cellular Physiology.","PeriodicalId":29896,"journal":{"name":"WIREs Mechanisms of Disease","volume":" ","pages":"e1637"},"PeriodicalIF":3.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10939871/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138810540","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0