New Biomarkers for Diagnostics in Metabolic Diseases

A special issue of Metabolites (ISSN 2218-1989). This special issue belongs to the section "Endocrinology and Clinical Metabolic Research".

Deadline for manuscript submissions: closed (15 March 2024) | Viewed by 6791

Special Issue Editors


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Guest Editor
Department of Pathophysiology, “Grigore T. Popa” University of Medicine and Pharmacy, 16 Universitatii Street, 700115 Iasi, Romania
Interests: cardiovascular diseases; metabolic diseases; diabetes mellitus; antioxidants
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
Department of Internal Medicine, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania
Interests: cardiovascular disease; atherosclerosis; arterial thrombosis; venous thrombosis; anticoagulants; hereditary thrombophilia; inflammation
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
Department of Pathophysiology, “Grigore T. Popa” University of Medicine and Pharmacy, 16 Universitatii Street, 700115 Iasi, Romania
Interests: cardiovascular diseases; hypercoagulability; acute cardiac care; noninvasive cardiovascular imaging techniques
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Metabolic processes are the essence of life. Thousands of chemical reactions occur in our bodies every second, forming an intricate web of biological processes that keep us alive and healthy.

However, disaster can strike anytime and anywhere. Acquired or congenital abnormalities of substrates or enzymes can affect one or more pathways of metabolic chains at one or more levels, ultimately ending in disease. The genetic substrate is particularly important whether inherited or de novo mutations are involved, as up to now over a thousand metabolic disorders with a genetic background have been identified. The absence or abnormality of an enzyme or its cofactor or a modulator of a metabolic pathway can lead to either the accumulation or deficiency of a particular metabolite. The clinical impact can range from the complete absence of signs and symptoms, to rapid and severe, and sometimes catastrophic, manifestations ending in early death. Considering that several distinct genetic anomalies can be clinically expressed similarly and that some clinical manifestations have a polygenic origin, the diagnostic approach can be tough if we do not have biomarkers available to help us identify the impaired link in the metabolic chain.

Acquired metabolic diseases are just as numerous and diverse. Under the pressure of external stress factors, the expression of genes and/or the activity of proteins can be affected, which leads to the impairment of metabolisms, and finally, to diseases. From metabolic syndrome to vitamin deficiencies, and from serum electrolyte disorders to exogenous intoxication, there is a wide variety of substrate alterations that can lead to organ or system dysfunction. Once again, biomarkers are vital for diagnosis, for monitoring the response to treatment and possibly for establishing a prognosis.

We invite you to share your experience regarding the newest, specific and useful biomarkers for metabolic diseases. Both original articles and reviews are welcome. Our goal is to provide practitioners with a strong reference point for their diagnostic approach in difficult cases of medical practice, and to provide researchers with solid arguments to guide and channel their effort towards insufficiently explored or understood biomarkers.

Dr. Manuela Ciocoiu
Dr. Minerva Codruta Badescu
Dr. Iris Bararu-Bojan
Guest Editors

Manuscript Submission Information

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Keywords

  • acquired metabolic diseases
  • hereditary metabolic diseases
  • biomarkers
  • inflammation
  • diabetes mellitus
  • dyslipidemia
  • storage disease

Published Papers (5 papers)

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Research

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14 pages, 1065 KiB  
Article
Performance Evaluation of a Novel Non-Invasive Test for the Detection of Advanced Liver Fibrosis in Metabolic Dysfunction-Associated Fatty Liver Disease
by Anna Stefanska, Katarzyna Bergmann, Szymon Suwała, Aneta Mankowska-Cyl, Marek Kozinski, Roman Junik, Magdalena Krintus and Mauro Panteghini
Metabolites 2024, 14(1), 52; https://doi.org/10.3390/metabo14010052 - 14 Jan 2024
Cited by 1 | Viewed by 1079
Abstract
Metabolic dysfunction-associated fatty liver disease (MAFLD) may progress to advanced liver fibrosis (ALF). We evaluated the diagnostic accuracy of a novel Liver Fibrosis Risk Index (LFRI) in MAFLD subjects using transient elastography (TE) as the reference method for liver fibrosis measurement and then [...] Read more.
Metabolic dysfunction-associated fatty liver disease (MAFLD) may progress to advanced liver fibrosis (ALF). We evaluated the diagnostic accuracy of a novel Liver Fibrosis Risk Index (LFRI) in MAFLD subjects using transient elastography (TE) as the reference method for liver fibrosis measurement and then the diagnostic performance of a new two-step non-invasive algorithm for the detection of ALF risk in MAFLD, using Fibrosis-4 (FIB-4) followed by LFRI and comparing it to the reference algorithm based on FIB-4 and TE. We conducted a prospective study on 104 MAFLD European adult subjects. All consenting subjects underwent TE and measurements of FIB-4 and LFRI. For FIB-4 and TE, validated cut-offs were used. An ROC analysis showed that LFRI diagnosed severe fibrosis with moderate accuracy in MAFLD subjects with a negative predictive value above 90%. Using the new algorithm with LFRI thresholds recommended by the manufacturer, the number of subjects classified into ALF risk groups (low, intermediate, or high) differed significantly when compared with the reference algorithm (p = 0.001), with moderate agreement between them (weighted kappa (95% CI) = 0.59 (0.41–0.77)). To improve the performance of the LFRI-based algorithm, we modified cut-off points based on ROC curves obtained by dividing the study population according to the reference algorithm and observed no difference between algorithms (p = 0.054) in categorizing ALF risk, with a slight increase in the total agreement (weighted kappa (95% CI) = 0.63 (0.44–0.82)). Our findings suggest that using the novel LFRI as a second-line test may represent a potential alternative for liver fibrosis risk stratification in MAFLD patients; however, modified cut-offs are needed to optimize its performance. Full article
(This article belongs to the Special Issue New Biomarkers for Diagnostics in Metabolic Diseases)
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Review

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14 pages, 257 KiB  
Review
Environmental and Metabolic Risk Factors Linked to Gallbladder Dysplasia
by Andrei Bojan, Catalin Pricop, Manuela Ciocoiu, Maria Cristina Vladeanu, Iris Bararu Bojan, Oana Viola Badulescu, Minerva Codruta Badescu, Carmen Elena Plesoianu, Dan Iliescu Halitchi and Liliana Georgeta Foia
Metabolites 2024, 14(5), 273; https://doi.org/10.3390/metabo14050273 - 8 May 2024
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Abstract
Gallbladder disorders encompass a spectrum from congenital anomalies to inflammatory and neoplastic conditions, frequently requiring surgical intervention. Epithelial abnormalities like adenoma and metaplasia have the potential to progress to carcinoma, emphasizing the importance of histopathological assessment for early detection of malignancy. Gallbladder cancer [...] Read more.
Gallbladder disorders encompass a spectrum from congenital anomalies to inflammatory and neoplastic conditions, frequently requiring surgical intervention. Epithelial abnormalities like adenoma and metaplasia have the potential to progress to carcinoma, emphasizing the importance of histopathological assessment for early detection of malignancy. Gallbladder cancer (GBC) may be incidentally discovered during cholecystectomy for presumed benign conditions, underscoring the need for a thorough examination. However, the lack of clarity regarding the molecular mechanisms of GBC has impeded diagnostic and therapeutic advancements. Timely detection is crucial due to GBC’s aggressive nature and poor prognosis. Chronic inflammation plays a central role in carcinogenesis, causing DNA damage and oncogenic alterations due to persistent insults. Inflammatory cytokines and microRNAs are among the various mediators contributing to this process. Gallbladder calcifications, particularly stippled ones, may signal malignancy and warrant preemptive removal. Molecular pathways involving mutations in oncogenes and tumor suppressor genes drive GBC pathogenesis, with proposed sequences such as gallstone-induced inflammation leading to carcinoma formation. Understanding these mechanisms, alongside evaluating mucin characteristics and gene mutations, can deepen comprehension of GBC’s pathophysiology. This, in turn, facilitates the identification of high-risk individuals and the development of improved treatment strategies, ultimately enhancing patient outcomes. Thus, in this review, our aim has been to underscore the primary mechanisms underlying the development of gallbladder dysplasia and neoplasia. Full article
(This article belongs to the Special Issue New Biomarkers for Diagnostics in Metabolic Diseases)
22 pages, 762 KiB  
Review
Interleukins: Pathogenesis in Non-Alcoholic Fatty Liver Disease
by Saira Rafaqat, Sanja Gluscevic, Filiz Mercantepe, Sana Rafaqat and Aleksandra Klisic
Metabolites 2024, 14(3), 153; https://doi.org/10.3390/metabo14030153 - 6 Mar 2024
Cited by 1 | Viewed by 1243
Abstract
Inflammatory cytokines have been implicated as crucial contributors to the onset and progression of non-alcoholic fatty liver disease (NAFLD). The exact mechanisms by which interleukins (ILs) contribute to NAFLD may vary, and ongoing research is aimed at understanding the specific roles of different [...] Read more.
Inflammatory cytokines have been implicated as crucial contributors to the onset and progression of non-alcoholic fatty liver disease (NAFLD). The exact mechanisms by which interleukins (ILs) contribute to NAFLD may vary, and ongoing research is aimed at understanding the specific roles of different ILs in the pathogenesis of this condition. In addition, variations in environmental factors and genetics in each individual can influence the onset and/or progression of NAFLD. The lack of clinical studies related to the potential therapeutic properties of IL-1 inhibitors currently does not allow us to conclude their validity as a therapeutic option, although preclinical studies show promising results. Further studies are needed to elucidate their beneficial properties in NAFLD treatment. Full article
(This article belongs to the Special Issue New Biomarkers for Diagnostics in Metabolic Diseases)
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26 pages, 975 KiB  
Review
Advances in Noninvasive Biomarkers for Nonalcoholic Fatty Liver Disease
by Georgiana-Emmanuela Gîlcă-Blanariu, Daniela Simona Budur, Dana Elena Mitrică, Elena Gologan, Oana Timofte, Gheorghe Gh Bălan, Vasile Andrei Olteanu and Gabriela Ștefănescu
Metabolites 2023, 13(11), 1115; https://doi.org/10.3390/metabo13111115 - 29 Oct 2023
Cited by 1 | Viewed by 1635
Abstract
Nonalcoholic fatty liver disease (NAFLD) currently represents one of the most common liver diseases worldwide. Early diagnosis and disease staging is crucial, since it is mainly asymptomatic, but can progress to nonalcoholic steatohepatitis (NASH) or cirrhosis or even lead to the development of [...] Read more.
Nonalcoholic fatty liver disease (NAFLD) currently represents one of the most common liver diseases worldwide. Early diagnosis and disease staging is crucial, since it is mainly asymptomatic, but can progress to nonalcoholic steatohepatitis (NASH) or cirrhosis or even lead to the development of hepatocellular carcinoma. Over time, efforts have been put into developing noninvasive diagnostic and staging methods in order to replace the use of a liver biopsy. The noninvasive methods used include imaging techniques that measure liver stiffness and biological markers, with a focus on serum biomarkers. Due to the impressive complexity of the NAFLD’s pathophysiology, biomarkers are able to assay different processes involved, such as apoptosis, fibrogenesis, and inflammation, or even address the genetic background and “omics” technologies. This article reviews not only the currently validated noninvasive methods to investigate NAFLD but also the promising results regarding recently discovered biomarkers, including biomarker panels and the combination of the currently validated evaluation methods and serum markers. Full article
(This article belongs to the Special Issue New Biomarkers for Diagnostics in Metabolic Diseases)
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16 pages, 753 KiB  
Review
Preptin: A New Bone Metabolic Parameter?
by Maria-Christina Ungureanu, Stefana Catalina Bilha, Mihai Hogas, Cristian Velicescu, Letitia Leustean, Laura Claudia Teodoriu and Cristina Preda
Metabolites 2023, 13(9), 991; https://doi.org/10.3390/metabo13090991 - 4 Sep 2023
Cited by 1 | Viewed by 1333
Abstract
Preptin is a 34-aminoacid peptide derived from the E-peptide of pro-insulin-like growth factor 2 (pro-IGF2) that is co-secreted with insulin and upregulates glucose-mediated insulin secretion. High serum preptin levels were described in conditions associated with insulin resistance, such as polycystic ovary syndrome and [...] Read more.
Preptin is a 34-aminoacid peptide derived from the E-peptide of pro-insulin-like growth factor 2 (pro-IGF2) that is co-secreted with insulin and upregulates glucose-mediated insulin secretion. High serum preptin levels were described in conditions associated with insulin resistance, such as polycystic ovary syndrome and type 2 diabetes mellitus (T2M). Insulin and also IGF2 are known to be anabolic bone hormones. The “sweet bone” in T2M usually associates increased density, but altered microarchitecture. Therefore, preptin was proposed to be one of the energy regulatory hormones that positively impacts bone health. Experimental data demonstrate a beneficial impact of preptin upon the osteoblasts. Preptin also appears to regulate osteocalcin secretion, which in turn regulates insulin sensitivity. Preptin is greatly influenced by the glucose tolerance status and the level of physical exercise, both influencing the bone mass. Clinical studies describe low serum preptin concentrations in osteoporosis in both men and women, therefore opening the way towards considering preptin a potential bone anabolic therapy. The current review addresses the relationship between preptin and bone mass and metabolism in the experimental and clinical setting, also considering the effects of preptin on carbohydrate metabolism and the pancreatic–bone loop. Full article
(This article belongs to the Special Issue New Biomarkers for Diagnostics in Metabolic Diseases)
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