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Biomolecules
Special Issues
Biomarkers in Metabolic Diseases
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Biomarkers in Metabolic Diseases

A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Biomarkers".

Deadline for manuscript submissions: closed (31 March 2024) | Viewed by 5681

Special Issue Editors

Prof. Dr. Anna Tylki-Szymańska

E-Mail Website
Guest Editor
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland
Interests: inborn errors of metabolism (IEM); lysosomal storage disorders (LSD)
Special Issues, Collections and Topics in MDPI journals
Dr. Patryk Lipiński

E-Mail Website
Guest Editor
Institute of Clinical Sciences, Maria Skłodowska-Curie Medical Academy, Warsaw, Poland
Interests: inborn errors of metabolism (IEM); lysosomal storage disorders (LSDs); congenital disorders of glycosylation (CDG); liver monogenic diseases; next-generation sequencing (NGS)
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Biomarkers are broadly defined as biological indicators, the study of which allows for a qualitative and quantitative assessment of various characteristics and biological states. In congenital metabolic diseases, biomarkers represent a useful biochemical tool for a precise and relatively straightforward diagnosis for determining the probability of disease occurrence and its progression as well as assessing the efficacy of therapy. Biomarkers can be measured using a variety of techniques in biochemistry, genetics, proteomics and imaging. In this way, they are an invaluable and dynamically developing source of biomedical knowledge. Of particular importance are the quantitative biomarkers that correlate with clinical manifestations enabling the determination of risk complications or survival (surrogate biomarkers). Surrogate biomarkers also play a key role in the drug licensing process and in monitoring the effects of therapy for rare diseases, i.e., genetically determined metabolic diseases.

The small number of patients and the clinical heterogeneity of the underlying pathology requires reliable, adequate, and objective parameters, which are particularly important in progressive diseases such as metabolic disorders.

Our Special Issue aims to share new knowledge in the use and study of biomarkers in diagnosing and monitoring congenital metabolic diseases.

Prof. Dr. Anna Tylki-Szymańska
Dr. Patryk Lipiński
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomolecules is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • metabolic disorders
  • inborn errors of metabolism
  • surrogate biomarkers
  • biochemical markers
  • diagnostic markers
  • newborn screening
  • molecular analyses
  • metabolomics
  • disease progression
  • treatment efficacy

Published Papers (4 papers)

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Research

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16 pages, 555 KiB  
Article
Whole-Body Cryotherapy Improves Asprosin Secretion and Insulin Sensitivity in Postmenopausal Women–Perspectives in the Management of Type 2 Diabetes
by Magdalena Wiecek, Jadwiga Szymura, Justyna Kusmierczyk, Maria Lipowska and Zbigniew Szygula
Biomolecules 2023, 13(11), 1602; https://doi.org/10.3390/biom13111602 - 31 Oct 2023
Viewed by 1136
Abstract
Type 2 diabetes (T2DM) is a global problem. The effect of whole-body cryotherapy (WBC) on metabolism in humans is postulated. The aim of this study was to determine the effect of WBC on asprosin concentrations, glucose homeostasis and insulin resistance in postmenopausal women [...] Read more.
Type 2 diabetes (T2DM) is a global problem. The effect of whole-body cryotherapy (WBC) on metabolism in humans is postulated. The aim of this study was to determine the effect of WBC on asprosin concentrations, glucose homeostasis and insulin resistance in postmenopausal women with T2DM. Changes in fasting blood glucose (FBG), glycated haemoglobin (HbA1c), insulin, asprosin, insulin-resistance indices (HOMA-IR, Quicki), the triglyceride–glucose index (TyG) and C-reactive protein (CRP) were determined. Determination was carried out after 30 WBCs (3 min, −120 °C), applied in six series of five treatments, with 2-day breaks in postmenopausal women with T2DM and the results were compared to changes in postmenopausal women without T2DM (CON). Blood was collected before 1 WBC (T0), after 30 WBCs (T1) and 2 weeks after their completion (T2). In the T2DM group, there was a significant decrease in FBG and HbA1c in T1 and T2, as well as a significant decrease in insulin, HOMA-IR and CRP, and an increase in the Quicki index in T2. In the CON group, the concentration of asprosin at T2 was significantly lower than at T0. There was a significantly positive correlation between asprosin and FBG and HOMA-IR, and a trend towards a decrease of asprosin concentration in T2 in postmenopausal women with T2DM. Full article
(This article belongs to the Special Issue Biomarkers in Metabolic Diseases)
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13 pages, 1424 KiB  
Article
Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy
by Paweł Dubiela, Paulina Szymańska-Rożek, Andrzej Eljaszewicz, Patryk Lipiński, Piotr Hasiński, Dorota Giersz, Alicja Walewska, Marlena Tynecka, Marcin Moniuszko and Anna Tylki-Szymańska
Biomolecules 2023, 13(4), 644; https://doi.org/10.3390/biom13040644 - 3 Apr 2023
Viewed by 1807
Abstract
Gaucher disease (GD) is the most frequent sphingolipidosis, caused by biallelic pathogenic variants in the GBA1 gene encoding for β-glucocerebrosidase (GCase, E.C. 3.2.1.45). The condition is characterized by hepatosplenomegaly, hematological abnormalities, and bone disease in both non-neuronopathic type 1 (GD1) and neuronopathic type [...] Read more.
Gaucher disease (GD) is the most frequent sphingolipidosis, caused by biallelic pathogenic variants in the GBA1 gene encoding for β-glucocerebrosidase (GCase, E.C. 3.2.1.45). The condition is characterized by hepatosplenomegaly, hematological abnormalities, and bone disease in both non-neuronopathic type 1 (GD1) and neuronopathic type 3 (GD3). Interestingly, GBA1 variants were found to be one of the most important risk factors for the development of Parkinson’s disease (PD) in GD1 patients. We performed a comprehensive study regarding the two most disease-specific biomarkers, glucosylsphingosine (Lyso-Gb1) and α-synuclein for GD and PD, respectively. A total of 65 patients with GD treated with ERT (47 GD1 patients and 18 GD3 patients), 19 GBA1 pathogenic variant carriers (including 10 L444P carriers), and 16 healthy subjects were involved in the study. Lyso-Gb1 was assessed by dried blood spot testing. The level of α-synuclein as an mRNA transcript, total, and oligomer protein concentration were measured with real-time PCR and ELISA, respectively. α-synuclein mRNA level was found significantly elevated in GD3 patients and L444P carriers. GD1 patients, along with GBA1 carriers of an unknown or unconfirmed variant, as well as healthy controls, have the same low level of α-synuclein mRNA. There was no correlation found between the level of α-synuclein mRNA and age in GD patients treated with ERT, whereas there was a positive correlation in L444P carriers. Full article
(This article belongs to the Special Issue Biomarkers in Metabolic Diseases)
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12 pages, 2333 KiB  
Article
A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients—A Qualitative and Quantitative Approach
by Paulina Szymańska-Rożek, Barbara Czartoryska, Grazina Kleinotiene, Patryk Lipiński, Anna Tylki-Szymańska and Agnieszka Ługowska
Biomolecules 2023, 13(3), 436; https://doi.org/10.3390/biom13030436 - 24 Feb 2023
Cited by 1 | Viewed by 1645
Abstract
Chitotriosidase is an enzyme produced and secreted in large amounts by activated macrophages, especially macrophages loaded with phagocytozed glycosphingolipid in Gaucher disease. Macrophages phagocytose decayed blood cells that contain a lot of sphingolipid-rich cell membranes. In Gaucher disease, due to a deficit in [...] Read more.
Chitotriosidase is an enzyme produced and secreted in large amounts by activated macrophages, especially macrophages loaded with phagocytozed glycosphingolipid in Gaucher disease. Macrophages phagocytose decayed blood cells that contain a lot of sphingolipid-rich cell membranes. In Gaucher disease, due to a deficit in beta-glucocerebrosidase activity, the phagocytozed substrate glucocerebroside cannot undergo further catabolism. In such a situation, macrophages secrete chitotriosidase in proportion to the degree of overload. Gaucher disease (GD) is a recessively inherited disorder resulting in storage of glucosylceramide (GlcCer) in lysosomes of tissue macrophages. It is directly caused by the deficiency of beta-glucocerebrosidase (GBA) activity. Chitotriosidase has been measured systematically each year in the same group of 49 patients with type 1 and 3 GD for over 20 years. Our analysis showed that chitotriosidase is very sensitive biomarker to enzyme replacement therapy (ERT). The response to treatment introduction is of an almost immediate nature, lowering pathologically high chitotriosidase levels by a factor of 2 in a time scale of 8 months, on average. Long term enzyme replacement therapy (ERT) brings chitotriosidase activity close to reference values. Finally, reducing the dose of ERT quickly boosts chitotriosidase activity, but restoring the initial dose of treatment brings chitotriosidase level of activity back onto the decreasing time trajectory. Full article
(This article belongs to the Special Issue Biomarkers in Metabolic Diseases)
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Review

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19 pages, 692 KiB  
Review
Proteomic Insights into Osteoporosis: Unraveling Diagnostic Markers of and Therapeutic Targets for the Metabolic Bone Disease
by Jihan Wang, Mengju Xue, Ya Hu, Jingwen Li, Zhenzhen Li and Yangyang Wang
Biomolecules 2024, 14(5), 554; https://doi.org/10.3390/biom14050554 - 4 May 2024
Viewed by 521
Abstract
Osteoporosis (OP), a prevalent skeletal disorder characterized by compromised bone strength and increased susceptibility to fractures, poses a significant public health concern. This review aims to provide a comprehensive analysis of the current state of research in the field, focusing on the application [...] Read more.
Osteoporosis (OP), a prevalent skeletal disorder characterized by compromised bone strength and increased susceptibility to fractures, poses a significant public health concern. This review aims to provide a comprehensive analysis of the current state of research in the field, focusing on the application of proteomic techniques to elucidate diagnostic markers and therapeutic targets for OP. The integration of cutting-edge proteomic technologies has enabled the identification and quantification of proteins associated with bone metabolism, leading to a deeper understanding of the molecular mechanisms underlying OP. In this review, we systematically examine recent advancements in proteomic studies related to OP, emphasizing the identification of potential biomarkers for OP diagnosis and the discovery of novel therapeutic targets. Additionally, we discuss the challenges and future directions in the field, highlighting the potential impact of proteomic research in transforming the landscape of OP diagnosis and treatment. Full article
(This article belongs to the Special Issue Biomarkers in Metabolic Diseases)
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