Danielle M Luettel, Marcia R Terluk, Jaehyeok Roh, Neal J Weinreb, Reena V Kartha
{"title":"Emerging biomarkers in Gaucher disease.","authors":"Danielle M Luettel, Marcia R Terluk, Jaehyeok Roh, Neal J Weinreb, Reena V Kartha","doi":"10.1016/bs.acc.2024.11.001","DOIUrl":"https://doi.org/10.1016/bs.acc.2024.11.001","url":null,"abstract":"<p><p>Gaucher disease (GD) is a rare lysosomal disorder characterized by the accumulation of glycosphingolipids in macrophages resulting from glucocerebrosidase (GCase) deficiency. The accumulation of toxic substrates, which causes the hallmark symptoms of GD, is dependent on the extent of enzyme dysfunction. Accordingly, three distinct subtypes have been recognized, with type 1 GD (GD1) as the common and milder form, while types 2 (GD2) and 3 (GD3) are categorized as neuronopathic and severe. Manifestations variably include hepatosplenomegaly, anemia, thrombocytopenia, easy bruising, inflammation, bone pain and other skeletal pathologies, abnormal eye movements and neuropathy. Although the molecular basis of GD is relatively well understood, currently used biomarkers are nonspecific and inadequate for making finer distinctions between subtypes and in evaluating changes in disease status and guiding therapy. Thus, there is continued effort to investigate and identify potential biomarkers to improve GD diagnosis, monitoring and potential identification of novel therapeutic targets. Here, we provide a comprehensive review of emerging biomarkers in GD that can enhance current understanding and improve quality of life through better testing, disease management and treatment.</p>","PeriodicalId":101297,"journal":{"name":"Advances in clinical chemistry","volume":"124 ","pages":"1-56"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Visceral fat distribution: Interracial studies.","authors":"Santasree Banerjee, Jiayin Lv, Chang He, Baiyu Qi, Weijie Ding, Kongrong Long, Junrong Chen, Jianping Wen, Peng Chen","doi":"10.1016/bs.acc.2024.10.001","DOIUrl":"10.1016/bs.acc.2024.10.001","url":null,"abstract":"<p><p>Visceral adipose tissue, a type of abdominal adipose tissue, is highly involved in lipolysis. Because increased visceral adiposity is strongly associated with the metabolic complications related with obesity, such as type 2 diabetes and cardiovascular disease, there is a need for precise, targeted, personalized and site-specific measures clinically. Existing studies showed that ectopic fat accumulation may be characterized differently among different populations due to complex genetic architecture and non-genetic or epigenetic components, ie, Asians have more and Africans have less visceral fat vs Europeans. In this review, we summarize the effects of multiple non-genetic and genetic factors on visceral fat distribution across races. Non-genetic factors include diet, socioeconomic status, sex hormones and psychological factors, etc. We examine genetic factors of racial differences in visceral fat content as well as possible regulatory pathways associated with interracial visceral fat distribution. A comprehensive understanding of both genetic and non-genetic factors that influence the distribution of visceral fat among races, leads us to predict risk of abdominal obesity and metabolic diseases in ethnic groups that enables targeted interventions through accurate diagnosis and treatment as well as reduced risk of obesity-associated complications.</p>","PeriodicalId":101297,"journal":{"name":"Advances in clinical chemistry","volume":"124 ","pages":"57-85"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cell-cell junctional proteins in cancer.","authors":"Aparajita Das, Sarbani Giri, Pubali Dey","doi":"10.1016/bs.acc.2024.11.006","DOIUrl":"https://doi.org/10.1016/bs.acc.2024.11.006","url":null,"abstract":"<p><p>A hallmark change during carcinogenesis is disruption or dysregulation of cell-cell junctions. It enables a transformed cell to adopt mesenchymal phenotype and acquire higher potential to migrate and invade. This ultimately leads to cancer metastasis. During this process, junctional proteins undergo remarkable changes in terms of their expressional pattern, localization, and activity. De-localized junctional proteins may adopt atypical roles which might act to either suppress tumorigenesis or facilitate cancer development, depending on several factors. In this chapter, the authors attempt to know the expression pattern of junctional proteins in different types of cancer, understand its significance, and gather knowledge about the mechanisms by which they regulate tumorigenesis and cancer development.</p>","PeriodicalId":101297,"journal":{"name":"Advances in clinical chemistry","volume":"125 ","pages":"93-142"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143485323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Preface.","authors":"Gregory S Makowski","doi":"10.1016/S0065-2423(25)00008-3","DOIUrl":"https://doi.org/10.1016/S0065-2423(25)00008-3","url":null,"abstract":"","PeriodicalId":101297,"journal":{"name":"Advances in clinical chemistry","volume":"124 ","pages":"xiii-xiv"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Preeclampsia and eclampsia: the role of hemolytic protozoan iron.","authors":"Kevin Roe","doi":"10.1016/bs.acc.2024.11.008","DOIUrl":"https://doi.org/10.1016/bs.acc.2024.11.008","url":null,"abstract":"<p><p>Organisms as well as pathogens require several transition metals including iron, copper, zinc, manganese, nickel and cobalt, for genetic replication and other cellular functions. Of these, iron is vital and plays a key role in DNA replication, transcription, synthesis of cofactors and other essential enzymes. During infection, iron deprivation, particularly sequestration thereof, represents a unique response against pathogen attack. The host sequesters ferrous (Fe<sup>2+</sup>) and ferric (Fe<sup>3+</sup>) iron via lactoferrin binding at mucosal surfaces, transferrin in blood and tissue and ferritin in blood and cytoplasm. Despite this protective mechanism, pathogens can be resilient in obtaining iron. For example, hemolytic protozoan parasites can obtain iron from heme by rupturing red blood cells. Furthermore, earlier pathogens, driven from active to inactive infections by iron deprivation, could now acquire sufficient iron to enable reactivation resulting in chronic inflammation, oxidative stress to organs and/or circulatory hypertension potentially leading to death. This review discusses the impact of hemolytic protozoan parasite infection in reactivation of latent iron-deprived pathogen infections thus explaining two puzzling pregnancy disorders, pre-eclampsia (PE) and eclampsia. The unknown causations of both disorders have created centuries of confusion and killed millions of women worldwide. Furthermore, reduction-oxidation reactions with iron promote additional oxidative stress damage to vital organs, particularly the kidneys, a common symptom in PE and eclampsia.</p>","PeriodicalId":101297,"journal":{"name":"Advances in clinical chemistry","volume":"125 ","pages":"169-194"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143485328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hafiz Muhammad Arsalan, Hina Mumtaz, Antonio Simone Lagana
{"title":"Biomarkers of endometriosis.","authors":"Hafiz Muhammad Arsalan, Hina Mumtaz, Antonio Simone Lagana","doi":"10.1016/bs.acc.2025.01.004","DOIUrl":"https://doi.org/10.1016/bs.acc.2025.01.004","url":null,"abstract":"<p><p>Endometriosis represents a diverse disease characterized by three distinct phenotypes: superficial peritoneal lesions, ovarian endometriomas, and deep infiltrating endometriosis. The most widely accepted pathophysiological hypothesis for endometriosis is rooted in retrograde menstruation, a phenomenon observed in most patients. Endometriosis is closely linked to infertility, but having endometriosis does not necessarily imply infertility. The disease can impact fertility through various mechanisms affecting the pelvic cavity, ovaries, and the uterus itself. MicroRNAs (miRNAs) indeed represent a fascinating and essential component of the regulatory machinery within cells. Discovered in the early 1990s, miRNAs have since been identified as critical players in gene expression control. Unfortunately, ovarian endometrioma is a common gynecologic disorder for which specific serum markers are currently lacking. Some have examined urocortin for its ability to differentiate endometriomas from other benign ovarian cysts. Another potential marker, Cancer Antigen 125 (CA-125) is a well-established indicator for epithelial cell ovarian cancer and its levels can be elevated in conditions such as endometriosis. CA-125 is derived from coelomic epithelia, including the endometrium, fallopian tube, ovary, and peritoneum. In this review we examine the pathophysiologic basis for endometriosis and highlight potential markers to more fully characterize the underlying biochemical processes linked to this multifaceted disease state.</p>","PeriodicalId":101297,"journal":{"name":"Advances in clinical chemistry","volume":"126 ","pages":"73-120"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143789494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Multiomics in cancer biomarker discovery and cancer subtyping.","authors":"Seunghwan Choi, Joon-Yong An","doi":"10.1016/bs.acc.2024.10.004","DOIUrl":"https://doi.org/10.1016/bs.acc.2024.10.004","url":null,"abstract":"<p><p>The advent of multiomics has ushered in a new era of cancer research characterized by integrated genomic, transcriptomic and proteomic analysis to unravel the complexities of cancer biology and facilitate the discovery of novel biomarkers. This chapter provides a comprehensive overview of the concept of multiomics, detailing the significant advances in the underlying technologies and their contributions to our understanding of cancer. It delves into the evolution of genomics and transcriptomics, breakthroughs in proteomics, and overarching progress in multiomic methodologies, highlighting their collective impact on cancer biomarker discovery. Furthermore, this chapter explores the computational methods essential for multiomic studies, including clustering techniques for delineating cancer subtypes, strategies for estimating molecular features and activities, and utility of pathway enrichment analyses for interpreting multiomic datasets. Particular focus has been placed on the application of these methods for identifying distinct cancer subtypes, thereby enabling a more personalized approach to cancer treatment. Through a detailed discussion of the scientific principles, technological advancements, and practical applications of multiomics, this chapter aims to underscore the pivotal role of multiomics in advancing cancer research and paving the way for personalized medicine. The insights provided herein not only illuminate the current landscape of cancer biomarker discovery, but also forecast future directions of multiomics research in oncology, advocating for a more integrated and nuanced approach to understanding and combating cancer.</p>","PeriodicalId":101297,"journal":{"name":"Advances in clinical chemistry","volume":"124 ","pages":"161-195"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Caio Ribeiro Vieira Leal, Heloisa Botezelli, Júlia Fernandes do Carmo Las Casas, Ana Cristina Simões E Silva, Fernando M Reis
{"title":"Urinary biomarkers of preeclampsia: An update.","authors":"Caio Ribeiro Vieira Leal, Heloisa Botezelli, Júlia Fernandes do Carmo Las Casas, Ana Cristina Simões E Silva, Fernando M Reis","doi":"10.1016/bs.acc.2024.11.002","DOIUrl":"https://doi.org/10.1016/bs.acc.2024.11.002","url":null,"abstract":"<p><p>Preeclampsia (PE), a pregnancy-related syndrome, has motivated extensive research to understand its pathophysiology and develop early diagnostic methods. 'Omic' technologies, focusing on genes, mRNA, proteins, and metabolites, have revolutionized biological system studies. Urine emerges as an ideal non-invasive specimen for omics analysis, offering accessibility, easy collection, and stability, making it valuable for identifying biomarkers. A comprehensive exploration of urinary omics in preeclampsia is discussed in this review. Proteomic studies identified biomarkers such as SERPINA-1 and uromodulin, showing promise for early diagnosis and severity assessment. Metabolomic analyses revealed alterations in metabolites like glycine and hippurate, providing insights into molecular mechanisms underlying PE. Challenges include methodological inconsistencies and the need for standardized protocols. Urinary omics technologies have significantly advanced our understanding of PE pathophysiology and hold promise for improved diagnosis and management. Biomarkers identified through these approaches offer potential for early detection, severity stratification, and elucidation of underlying mechanisms.</p>","PeriodicalId":101297,"journal":{"name":"Advances in clinical chemistry","volume":"124 ","pages":"197-211"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143019638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mohammad Muzaffar Mir, Mushabab Alghamdi, Waad Fuad BinAfif, Muffarah Hamid Alharthi, Abdullah M Alshahrani, Mohannad Mohammad S Alamri, Jaber Alfaifi, Ahmed Yahia Al Ameer, Rashid Mir
{"title":"Emerging biomarkers in type 2 diabetes mellitus.","authors":"Mohammad Muzaffar Mir, Mushabab Alghamdi, Waad Fuad BinAfif, Muffarah Hamid Alharthi, Abdullah M Alshahrani, Mohannad Mohammad S Alamri, Jaber Alfaifi, Ahmed Yahia Al Ameer, Rashid Mir","doi":"10.1016/bs.acc.2025.01.002","DOIUrl":"https://doi.org/10.1016/bs.acc.2025.01.002","url":null,"abstract":"<p><p>Diabetes mellitus is a chronic condition caused by high blood glucose resulting from insufficient insulin production or cellular resistance to insulin action or both. It is one of the fastest-growing public health concerns worldwide. Development of long-term nephropathy, retinopathy, neuropathy, and cardiovascular disease are some of the complications commonly associated with poor blood glycemic control. Type 2 diabetes mellitus (T2DM), the most prevalent type of diabetes, accounts for around 95 % of all cases globally. Although middle-aged or older adults are more likely to develop T2DM, its prevalence has grown in children and young people due to increased obesity, sedentary lifestyle and poor nutrition. Furthermore, it is believed that more than 50 % of cases go undiagnosed annually. Routine screening is essential to ensure early detection and reduce risk of life-threatening complications. Herein, we review traditional biomarkers and highlight the ongoing pursuit of novel and efficacious biomarkers driven by the objective of achieving early, precise and prompt diagnoses. It is widely acknowledged that individual biomarkers will inevitably have certain limitations necessitating the need for integrating multiple markers in screening.</p>","PeriodicalId":101297,"journal":{"name":"Advances in clinical chemistry","volume":"126 ","pages":"155-198"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143789498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ulvi Kahraman Gürsoy, Ilias Oikonomou, Mustafa Yilmaz, Mervi Gürsoy
{"title":"Advances in periodontal healing biomarkers.","authors":"Ulvi Kahraman Gürsoy, Ilias Oikonomou, Mustafa Yilmaz, Mervi Gürsoy","doi":"10.1016/bs.acc.2024.11.007","DOIUrl":"https://doi.org/10.1016/bs.acc.2024.11.007","url":null,"abstract":"<p><p>Periodontitis is the infectious-inflammatory disease of tooth-supporting tissues. Periodontal treatment, either non-surgical or surgical, aims to remove infection, reduce inflammation, eliminate tissue loss, and gain clinical attachment. Clinical and radiographic recordings are widely used and accepted as gold-standard methods in periodontal diagnostics. While these traditional methods allow clinicians to monitor and diagnose periodontitis, they cannot be used to estimate the course of periodontal healing, or predict the disease recurrence or estimate the treatment outcome. Early prediction of the long-term consequences of periodontal treatment would be a crucial and valuable information not only for the clinicians, but also for the patients. Rapid advancements during past few decades boosted the periodontal biomarker studies and various microbe- or host-derived biochemical markers have been suggested as diagnostic biomarkers of periodontitis. Yet, there is no consensus regarding the accuracy of diagnostic biomarkers to monitor treatment response or to predict prognosis. The aim of this chapter will be to describe the healing patterns of periodontal tissues after treatment and present the available evidence on biomarkers that can indicate or predict successful treatment outcomes.</p>","PeriodicalId":101297,"journal":{"name":"Advances in clinical chemistry","volume":"125 ","pages":"143-167"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143485251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}