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Biomedicines
Special Issues
Genetics and Epigenetics of Kidney Diseases
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Genetics and Epigenetics of Kidney Diseases

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".

Deadline for manuscript submissions: closed (31 March 2024) | Viewed by 7725

Special Issue Editors

Dr. Andreea Andronesi

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Guest Editor
Lecturer, Nephrology Department, Fundeni Clinical Institute, “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania
Interests: onco-nephrology; kidney involvement in hematopoietic stem cell transplantation; tuberous sclerosis complex and other rare genetic kidney diseases; monoclonal gammopathy of renal significance; cardiovascular disease in chronic kidney disease
Prof. Dr. Liliana Garneata

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Co-Guest Editor
Associate Professor, Department of Internal Medicine and Nephrology, “Dr Carol Davila” Teaching Hospital of Nephrology, “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania
Interests: epidemiology of chronic kidney disease; nutrition and metabolism in kidney diseases; anemia in chronic kidney disease; oral health impairment in chronic kidney disease; diabetic kidney disease; Fabry disease and other rare inherited kidney disorders

Special Issue Information

Dear Colleagues,

Kidney diseases are a major health problem with increasing incidence, with serious impacts on patients’ co-morbidities (mainly cardiovascular), and on patients’ quality of life and survival, but also with a huge economic impact for caregivers. Both genomic and environmental factors contribute to the development of kidney diseases. Besides monogenic inherited diseases, there are some genetic variations (e.g., APOL1 genes) that are linked to increased risk of developing kidney diseases (e.g., diabetic kidney disease, HIV-associated nephropathy, hypertensive nephropathy), especially in certain populations. Moreover, social and environmental factors play a major role in gene expression and risk of kidney diseases. A deeper understanding of all these factors and of the complex interaction between them may contribute to better patient management and outcome.

The aim of this Special Issue is to bring together international experts to provide a comprehensive overview about this important and dynamic research field. Therefore, we invite you to participate by contributing either an original research article or a review focused on some aspects of this complex topic. Research areas may include (but are not limited to) genetics and epigenetics involved in the progression of chronic kidney disease, kidney stones, kidney malignancies, progression from acute to chronic kidney disease, development and progression of common causes of chronic kidney disease (e.g., diabetic kidney disease, polycystic kidney disease, vasculitis), but also in some rare genetic diseases such as atypical hemolytic-uremic syndrome and Fabry disease.

Dr. Andreea Andronesi
Prof. Dr. Liliana Garneata
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. Biomedicines 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 2600 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

  • chronic kidney disease
  • kidney cancer
  • kidney stones
  • risk factors
  • genomic
  • inheritance, hereditary kidney diseases

Published Papers (4 papers)

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17 pages, 2344 KiB  
Article
A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning Kidney
by Sander Groen in ’t Woud, Carlo Maj, Kirsten Y. Renkema, Rik Westland, Tessel Galesloot, Iris A. L. M. van Rooij, Sita H. Vermeulen, Wout F. J. Feitz, Nel Roeleveld, Michiel F. Schreuder and Loes F. M. van der Zanden
Biomedicines 2022, 10(12), 3023; https://doi.org/10.3390/biomedicines10123023 - 23 Nov 2022
Cited by 1 | Viewed by 1787
Abstract
Congenital solitary functioning kidney (CSFK) is a birth defect that occurs in 1:1500 children and predisposes them to kidney injury. Its aetiology is likely multifactorial. In addition to known monogenic causes and environmental risk factors, common genetic variation may contribute to susceptibility to [...] Read more.
Congenital solitary functioning kidney (CSFK) is a birth defect that occurs in 1:1500 children and predisposes them to kidney injury. Its aetiology is likely multifactorial. In addition to known monogenic causes and environmental risk factors, common genetic variation may contribute to susceptibility to CSFK. We performed a genome-wide association study among 452 patients with CSFK and two control groups of 669 healthy children and 5363 unaffected adults. Variants in two loci reached the genome-wide significance threshold of 5 × 10−8, and variants in 30 loci reached the suggestive significance threshold of 1 × 10−5. Of these, an identified locus with lead single nucleotide variant (SNV) rs140804918 (odds ratio 3.1, p-value = 1.4 × 10−8) on chromosome 7 was most promising due to its close proximity to HGF, a gene known to be involved in kidney development. Based on their known molecular functions, both KCTD20 and STK38 could explain the suggestive significant association with lead SNV rs148413365 on chromosome 6. Our findings need replication in an independent cohort of CSFK patients before they can be established definitively. However, our analysis suggests that common variants play a role in CSFK aetiology. Future research could enhance our understanding of the molecular mechanisms involved. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Kidney Diseases)
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16 pages, 1529 KiB  
Article
MicroRNA Associated with the Invasive Phenotype in Clear Cell Renal Cell Carcinoma: Let-7c-5p Inhibits Proliferation, Migration, and Invasion by Targeting Insulin-like Growth Factor 1 Receptor
by Thomas J. Kalantzakos, Luke E. Sebel, James Trussler, Travis B. Sullivan, Eric J. Burks, Carmen D. Sarita-Reyes, David Canes, Alireza Moinzadeh and Kimberly M. Rieger-Christ
Biomedicines 2022, 10(10), 2425; https://doi.org/10.3390/biomedicines10102425 - 28 Sep 2022
Cited by 1 | Viewed by 1337
Abstract
Differential microRNA (miRNA) expression can portend clear cell renal cell carcinoma (ccRCC) progression. In a previous study, we identified a subset of dysregulated miRNA in small renal masses, pT1 ccRCC (≤5 cm) that are associated with an aggressive phenotype. The present study investigated [...] Read more.
Differential microRNA (miRNA) expression can portend clear cell renal cell carcinoma (ccRCC) progression. In a previous study, we identified a subset of dysregulated miRNA in small renal masses, pT1 ccRCC (≤5 cm) that are associated with an aggressive phenotype. The present study investigated miRNA expression in clinical stage I (cT1) tumors (≤5 cm), comparing pathologic stage I (pT1) tumors to those upstaged to pathologic stage 3 (pT3) after surgery following identification of renal vein invasion or invasion into adjacent fat tissue within Gerota’s fascia. Twenty cT1 tumors were examined in an miRNA screening, 10 pT1 and 10 pT3 tumors. The ccRCC cell lines 786-O and Caki-1 were used to assess the impact of let-7c-5p and its protein target insulin-like growth factor 1 receptor (IGF1R). Cells were transfected with pre-let-7c-5p and assessed through cell proliferation, migration, and invasion assays. IGF1R expression was evaluated through Simple Western, and interaction between let-7c-5p and IGF1R was confirmed via luciferase reporter assay. Screening identified 20 miRNA, including let-7c-5p, that were dysregulated between pT1 and pT3 upstaged tumors. This miRNA was also downregulated in our previous study of pT1 tumors that progressed to metastatic disease. Transfection of ccRCC cells with pre-let-7c-5p significantly inhibited proliferation, migration, invasion, and IGF1R expression. These findings suggest that miRNA dysregulation is involved in ccRCC progression, specifically through invasion, and that let-7c-5p downregulation contributes to the aggressiveness of small ccRCC tumors, in part, through its regulation of IGF1R. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Kidney Diseases)
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12 pages, 1252 KiB  
Article
Chronic Kidney Disease—An Underestimated Risk Factor for Antimicrobial Resistance in Patients with Urinary Tract Infections
by Ileana Adela Vacaroiu, Elena Cuiban, Bogdan Florin Geavlete, Valeriu Gheorghita, Cristiana David, Cosmin Victor Ene, Catalin Bulai, Gabriela Elena Lupusoru, Mircea Lupusoru, Andra Elena Balcangiu-Stroescu, Larisa Florina Feier, Ioana Sorina Simion and Daniela Radulescu
Biomedicines 2022, 10(10), 2368; https://doi.org/10.3390/biomedicines10102368 - 22 Sep 2022
Cited by 6 | Viewed by 1712
Abstract
(1) Background: Chronic kidney disease (CKD), as well as antimicrobial resistance (AMR) represent major global health problems, with important social and economic implications. It was reported that CKD is a risk factor for antimicrobial resistance, but evidence is scarce. In addition, CKD is [...] Read more.
(1) Background: Chronic kidney disease (CKD), as well as antimicrobial resistance (AMR) represent major global health problems, with important social and economic implications. It was reported that CKD is a risk factor for antimicrobial resistance, but evidence is scarce. In addition, CKD is recognized to be a risk factor for complicated urinary tract infections (UTIs). (2) Methods: We conducted an observational study on 564 adult in-hospital patients diagnosed with urinary tract infections. The aim of the study was to identify the risk factors for AMR, as well as multiple drug resistance (MDR) and the implicated resistance patterns. (3) Results: The mean age was 68.63 ± 17.2 years. The most frequently isolated uropathogens were Escherichia coli strains (68.3%) followed by Klebsiella species (spp. (11.2%). In 307 cases (54.4%)), the UTIs were determined by antibiotic-resistant bacteria (ARBs) and 169 cases (30%) were UTIs with MDR strains. Increased age (≥65) OR 2.156 (95% CI: 1.404–3.311), upper urinary tract obstruction OR 1.666 (1.083–2.564), indwelling urinary catheters OR 6.066 (3.919–9.390), chronic kidney disease OR 2.696 (1.832–3.969), chronic hemodialysis OR 4.955 (1.828–13.435) and active malignancies OR 1.962 (1.087–3.540) were independent risk factors for MDR UTIs. In a multivariate logistic regression model, only indwelling urinary catheters (OR 5.388, 95% CI: 3.294–8.814, p < 0.001), CKD (OR 1.779, 95% CI: 1.153–2.745, p = 0.009) and chronic hemodialysis (OR 4.068, 95% 1.413–11.715, p = 0.009) were risk factors for UTIs caused by MDR uropathogens. (4) Conclusions: CKD is an important risk factor for overall antimicrobial resistance, but also for multiple-drug resistance. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Kidney Diseases)
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16 pages, 1306 KiB  
Systematic Review
Epigenetic Mechanisms and Nephrotic Syndrome: A Systematic Review
by Samantha Hayward, Kevon Parmesar, Gavin I. Welsh, Matthew Suderman and Moin A. Saleem
Biomedicines 2023, 11(2), 514; https://doi.org/10.3390/biomedicines11020514 - 10 Feb 2023
Cited by 1 | Viewed by 1923
Abstract
A small subset of people with nephrotic syndrome (NS) have genetically driven disease. However, the disease mechanisms for the remaining majority are unknown. Epigenetic marks are reversible but stable regulators of gene expression with utility as biomarkers and therapeutic targets. We aimed to [...] Read more.
A small subset of people with nephrotic syndrome (NS) have genetically driven disease. However, the disease mechanisms for the remaining majority are unknown. Epigenetic marks are reversible but stable regulators of gene expression with utility as biomarkers and therapeutic targets. We aimed to identify and assess all published human studies of epigenetic mechanisms in NS. PubMed (MEDLINE) and Embase were searched for original research articles examining any epigenetic mechanism in samples collected from people with steroid resistant NS, steroid sensitive NS, focal segmental glomerulosclerosis or minimal change disease. Study quality was assessed by using the Joanna Briggs Institute critical appraisal tools. Forty-nine studies met our inclusion criteria. The majority of these examined micro-RNAs (n = 35, 71%). Study quality was low, with only 23 deemed higher quality, and most of these included fewer than 100 patients and failed to validate findings in a second cohort. However, there were some promising concordant results between the studies; higher levels of serum miR-191 and miR-30c, and urinary miR-23b-3p and miR-30a-5p were observed in NS compared to controls. We have identified that the epigenome, particularly DNA methylation and histone modifications, has been understudied in NS. Large clinical studies, which utilise the latest high-throughput technologies and analytical pipelines, should focus on addressing this critical gap in the literature. Full article
(This article belongs to the Special Issue Genetics and Epigenetics of Kidney Diseases)
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