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Candidate Biomarkers in Pathophysiology and Diagnostics of Endocrinopathies
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Candidate Biomarkers in Pathophysiology and Diagnostics of Endocrinopathies

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Endocrinology and Metabolism".

Deadline for manuscript submissions: closed (31 July 2021) | Viewed by 21533

Special Issue Editor

Dr. Martin Hill

E-Mail Website
Guest Editor
Department of Steroids and Proteofactors, Institute of Endocrinology, Národní 8, 116 94 Prague, Czech Republic
Interests: steroids; steroidomics; chemometrics; neuroactive steroids; steroids and pregnancy; chromatography
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue, “Candidate Biomarkers in Pathophysiology and Diagnostics of Endocrinopathies”, will embrace recent original research studies, up-to-date review articles, and metanalyses focused on novel molecular, cellular, and imaging biomarkers, which are potentially effective in the diagnostics of various endocrinopathies and for the explanation of the corresponding pathophysiological mechanisms. Biomarker research enables the detection of promising candidates for predicting progression towards diseases, the prognosis of the subsequent development and outcome of a disease, as well as the identification of optimal treatment strategies. In addition, biomarker detection may contribute to future personalized therapies for various endocrine-related diseases. Naturally, a consequent validation procedure for candidate biomarkers in large prospective studies is necessary to obtain reliable data for the quality assessment of the selected biomarkers. Since the future of biomarker science is based on a combination of imaging and “-omics” techniques, studies based on these approaches are highly appreciated. Last, but not least, a proper statistical evaluation of the primary data is an integral component of quality assessments, and therefore, new statistical approaches and discrimination metrics for the selection of candidate biomarkers are also welcomed.

Dr. Martin Hill
Guest Editor

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Keywords

  • biomarkers
  • pathophysiology
  • diagnosis
  • disease prediction
  • development and outcome prognosis
  • genomics
  • epigenomics
  • proteomics
  • metabolomics
  • omics platforms
  • discrimination metrics

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Published Papers (5 papers)

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Research

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13 pages, 2079 KiB  
Article
Multiplex Autoantibody Detection in Patients with Autoimmune Polyglandular Syndromes
by Elena N. Savvateeva, Marina Yu. Yukina, Nurana F. Nuralieva, Marina A. Filippova, Dmitry A. Gryadunov and Ekaterina A. Troshina
Int. J. Mol. Sci. 2021, 22(11), 5502; https://doi.org/10.3390/ijms22115502 - 23 May 2021
Cited by 17 | Viewed by 3387
Abstract
The diagnosis of autoimmune polyglandular syndrome (APS) types 1/2 is difficult due to their rarity and nonspecific clinical manifestations. APS-1 development can be identified with assays for autoantibodies against cytokines, and APS-2 development with organ-specific antibodies. In this study, a microarray-based multiplex assay [...] Read more.
The diagnosis of autoimmune polyglandular syndrome (APS) types 1/2 is difficult due to their rarity and nonspecific clinical manifestations. APS-1 development can be identified with assays for autoantibodies against cytokines, and APS-2 development with organ-specific antibodies. In this study, a microarray-based multiplex assay was proposed for simultaneous detection of both organ-specific (anti-21-OH, anti-GAD-65, anti-IA2, anti-ICA, anti-TG, and anti-TPO) and APS-1-specific (anti-IFN-ω, anti-IFN-α-2a, and anti-IL-22) autoantibodies. Herein, 206 serum samples from adult patients with APS-1, APS-2, isolated autoimmune endocrine pathologies or non-autoimmune endocrine pathologies and from healthy donors were analyzed. The prevalence of autoantibodies differed among the groups of healthy donors and patients with non-, mono- and multi-endocrine diseases. APS-1 patients were characterized by the presence of at least two specific autoantibodies (specificity 99.5%, sensitivity 100%). Furthermore, in 16 of the 18 patients, the APS-1 assay revealed triple positivity for autoantibodies against IFN-ω, IFN-α-2a and IL-22 (specificity 100%, sensitivity 88.9%). No anti-cytokine autoantibodies were found in the group of patients with non-APS-1 polyendocrine autoimmunity. The accuracy of the microarray-based assay compared to ELISA for organ-specific autoantibodies was 88.8–97.6%. This multiplex assay can be part of the strategy for diagnosing and predicting the development of APS. Full article
(This article belongs to the Special Issue Candidate Biomarkers in Pathophysiology and Diagnostics of Endocrinopathies)
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19 pages, 7350 KiB  
Article
Low Protein Expression of both ATRX and ZNRF3 as Novel Negative Prognostic Markers of Adult Adrenocortical Carcinoma
by Vania Balderrama Brondani, Amanda Meneses Ferreira Lacombe, Beatriz Marinho de Paula Mariani, Luciana Montenegro, Iberê Cauduro Soares, João Evangelista Bezerra-Neto, Fabio Yoshiaki Tanno, Victor Srougi, José Luis Chambo, Berenice Bilharinho Mendonca, Madson Q. Almeida, Maria Claudia Nogueira Zerbini and Maria Candida Barisson Villares Fragoso
Int. J. Mol. Sci. 2021, 22(3), 1238; https://doi.org/10.3390/ijms22031238 - 27 Jan 2021
Cited by 12 | Viewed by 2918
Abstract
Adrenocortical carcinoma (ACC) is a rare malignancy that is associated with a dismal prognosis. Pan-genomic studies have demonstrated the involvement of ATRX and ZNRF3 genes in adrenocortical tumorigenesis. Our aims were to evaluate the protein expression of ATRX and ZNRF3 in a cohort [...] Read more.
Adrenocortical carcinoma (ACC) is a rare malignancy that is associated with a dismal prognosis. Pan-genomic studies have demonstrated the involvement of ATRX and ZNRF3 genes in adrenocortical tumorigenesis. Our aims were to evaluate the protein expression of ATRX and ZNRF3 in a cohort of 82 adults with ACC and to establish their prognostic value. Two pathologists analyzed immuno-stained slides of a tissue microarray. The low protein expression of ATRX and ZNRF3 was associated with a decrease in overall survival (OS) (p = 0.045, p = 0.012, respectively). The Cox regression for ATRX protein expression of >1.5 showed a hazard ratio (HR) for OS of 0.521 (95% CI 0.273–0.997; p = 0.049) when compared with ≤1.5; for ZNRF3 expression >2, the HR for OS was 0.441 (95% CI, 0.229–0.852; p = 0.015) when compared with ≤2. High ATRX and ZNRF3 protein expressions were associated with optimistic recurrence-free survival (RFS) (p = 0.027 and p = 0.005, respectively). The Cox regression of RFS showed an HR of 0.332 (95%CI, 0.111–0.932) for ATRX expression >2.7 (p = 0.037), and an HR of 0.333 (95%CI, 0.140–0.790) for ZNRF3 expression >2 (p = 0.013). In conclusion, low protein expression of ATRX and ZNRF3 are negative prognostic markers of ACC; however, different cohorts should be evaluated to validate these findings. Full article
(This article belongs to the Special Issue Candidate Biomarkers in Pathophysiology and Diagnostics of Endocrinopathies)
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Review

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13 pages, 609 KiB  
Review
Movement as a Positive Modulator of Aging
by Marie Bičíková, Ludmila Máčová, Dobroslava Jandová, Zdeněk Třískala and Martin Hill
Int. J. Mol. Sci. 2021, 22(12), 6278; https://doi.org/10.3390/ijms22126278 - 11 Jun 2021
Cited by 6 | Viewed by 4501
Abstract
The aging of human populations, including those in Europe, is an indisputable fact. The challenge for the future is not simply prolonging human life at any cost or by any means but rather extending self-sufficiency and quality of life. Even in the most [...] Read more.
The aging of human populations, including those in Europe, is an indisputable fact. The challenge for the future is not simply prolonging human life at any cost or by any means but rather extending self-sufficiency and quality of life. Even in the most advanced societies, the eternal questions remain. Who will take care of the older generations? Will adult children’s own circumstances be sufficient to support family members as they age? For a range of complex reasons, including socioeconomic conditions, adult children are often unable or unwilling to assume responsibility for the care of older family members. For this reason, it is imperative that aging adults maintain their independence and self-care for as long as possible. Movement is an important part of self-sufficiency. Moreover, movement has been shown to improve patients’ clinical status. At a time when the coronavirus pandemic is disrupting the world, older people are among the most vulnerable. Our paper explores current knowledge and offers insights into the significant benefits of movement for the elderly, including improved immunity. We discuss the biochemical processes of aging and the counteractive effects of exercise and endogenous substances, such as vitamin D. Full article
(This article belongs to the Special Issue Candidate Biomarkers in Pathophysiology and Diagnostics of Endocrinopathies)
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16 pages, 2387 KiB  
Review
A Narrative Review of Genetic Alterations in Primary Thyroid Epithelial Cancer
by Cristina Romei and Rossella Elisei
Int. J. Mol. Sci. 2021, 22(4), 1726; https://doi.org/10.3390/ijms22041726 - 9 Feb 2021
Cited by 71 | Viewed by 5418
Abstract
Thyroid carcinoma is the most frequent endocrine neoplasia. Different types of thyroid carcinoma are described: well-differentiated papillary thyroid carcinoma (PTC), poorly differentiated thyroid carcinoma (PDTC), follicular thyroid carcinoma (FTC), anaplastic thyroid carcinoma (ATC), and medullary thyroid carcinoma (MTC). MTC is inherited as an [...] Read more.
Thyroid carcinoma is the most frequent endocrine neoplasia. Different types of thyroid carcinoma are described: well-differentiated papillary thyroid carcinoma (PTC), poorly differentiated thyroid carcinoma (PDTC), follicular thyroid carcinoma (FTC), anaplastic thyroid carcinoma (ATC), and medullary thyroid carcinoma (MTC). MTC is inherited as an autosomal dominant trait in 25% of cases. The genetic landscape of thyroid carcinoma has been largely deciphered. In PTC, genetic alterations have been found in about 95% of tumors: BRAF mutations and RET rearrangements are the main genetic alterations. BRAF and RAS mutations have been confirmed to play an important role also in PDTC and ATC, together with TP53 mutations that are fundamental in tumor progression. It has also been clearly demonstrated that telomerase reverse transcriptase (TERT) promoter mutations and TP53 mutations are present with a high-frequency in more advanced tumors, frequently associated with other mutations, and their presence, especially if simultaneous, is a signature of aggressiveness. In MTC, next-generation sequencing confirmed that mutations in the RET gene are the most common molecular events followed by H-RAS and K-RAS mutations. The comprehensive knowledge of the genetic events responsible for thyroid tumorigenesis is important to better predict the biological behavior and better plan the therapeutic strategy for specific treatment of the malignancy based on its molecular profile. Full article
(This article belongs to the Special Issue Candidate Biomarkers in Pathophysiology and Diagnostics of Endocrinopathies)
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20 pages, 343 KiB  
Review
Determination of Intraprostatic and Intratesticular Androgens
by Markéta Šimková, Jiří Heráček, Pavel Drašar and Richard Hampl
Int. J. Mol. Sci. 2021, 22(1), 466; https://doi.org/10.3390/ijms22010466 - 5 Jan 2021
Cited by 6 | Viewed by 4334
Abstract
Androgens represent the main hormones responsible for maintaining hormonal balance and function in the prostate and testis. As they are involved in prostate and testicular carcinogenesis, more detailed information of their active concentration at the site of action is required. Since the introduction [...] Read more.
Androgens represent the main hormones responsible for maintaining hormonal balance and function in the prostate and testis. As they are involved in prostate and testicular carcinogenesis, more detailed information of their active concentration at the site of action is required. Since the introduction of the term intracrinology as the local formation of active steroid hormones from inactive precursors of the adrenal gland, mainly dehydroepiandrosterone (DHEA) and DHEA-S, it is evident that blood circulating levels of sex steroid hormones need not reflect their actual concentrations in the tissue. Here, we review and critically evaluate available methods for the analysis of human intraprostatic and intratesticular steroid concentrations. Since analytical approaches have much in common in both tissues, we discuss them together. Preanalytical steps, including various techniques for separation of the analytes, are compared, followed by the end-point measurement. Advantages and disadvantages of chromatography-mass spectrometry (LC-MS, GC-MS), immunoanalytical methods (IA), and hybrid (LC-IA) are discussed. Finally, the clinical information value of the determined steroid hormones is evaluated concerning differentiating between patients with cancer or benign hyperplasia and between patients with different degrees of infertility. Adrenal-derived 11-oxygenated androgens are mentioned as perspective prognostic markers for these purposes. Full article
(This article belongs to the Special Issue Candidate Biomarkers in Pathophysiology and Diagnostics of Endocrinopathies)
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