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Role of Mutations and Polymorphisms in Various Diseases: 2nd Edition
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Role of Mutations and Polymorphisms in Various Diseases: 2nd Edition

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

Deadline for manuscript submissions: 20 April 2026 | Viewed by 1825

Special Issue Editor

Prof. Dr. Anna Cieslinska

E-Mail Website
Guest Editor
Department of Biology and Biotechnology, University of Warmia and Mazury, 10-719 Olsztyn, Poland
Interests: proteins; opioids; nutrigenomics; polymorphism; SNPs; mutations; vitamins; markers
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This is a continuation of the series on the hot topic of the “Role of Mutations and Polymorphisms in Various Diseases”; our first Special Issue on this topic received interesting contributions and discussions (https://www.mdpi.com/journal/ijms/special_issues/13BKNJIRQ4).

Genetic polymorphisms and mutations can affect the gene expression, modify the quantity and quality of the encoded product (protein), and significantly alter the metabolic pathway and its control, and thus cause changes in the functioning of metabolic pathways. In this way, some changes in the genome are involved in not only the initiation but also the progression/regression of diseases.

In this Special Issue of the International Journal of Molecular Sciences, we focus our attention on the latest discoveries and developments in correlations between genetic mutations and their relation to diseases in animals and human studies and possible underlying mechanisms. We also indicate metabolic pathways considered to have an impact on the development of the disease, as well as genes and polymorphisms involved in the process.

We provide a comprehensive update on the literature accessible to scientists from the field.  Thus, we wish to invite investigators from basic, genetic, pathophysiological, nutritional, and metabolism research or closely related disciplines to contribute original articles, reviews, communications, and conceptual papers.

Prof. Dr. Anna Cieslinska
Guest Editor

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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

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Keywords

  • nutrigenomics
  • polymorphism
  • SNPs
  • mutations
  • predisposition
  • correlation
  • diversity
  • deletion
  • insertion

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Published Papers (3 papers)

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Research

15 pages, 2310 KB  
Communication
β-Casein A1 and A2 Genetic Variants and β-Casomorphin-7 in Raw Milk and Processed Milk Products
by Stanisław Kamiński and Anna Cieślińska
Int. J. Mol. Sci. 2025, 26(17), 8612; https://doi.org/10.3390/ijms26178612 - 4 Sep 2025
Viewed by 579
Abstract
The A1 and A2 variants of bovine β-casein (CSN2) have gained attention in the dairy industry due to potential health effects. The A1 variant, prevalent in Holstein-Friesian cattle, is a major source of β-casomorphin-7 (BCM-7)—an opioid-like peptide released during digestion and associated with [...] Read more.
The A1 and A2 variants of bovine β-casein (CSN2) have gained attention in the dairy industry due to potential health effects. The A1 variant, prevalent in Holstein-Friesian cattle, is a major source of β-casomorphin-7 (BCM-7)—an opioid-like peptide released during digestion and associated with lower digestive comfort. In this study, β-casein A1 and A2 variants and BCM-7 levels were quantified in raw milk and three commonly consumed dairy products (pasteurized milk, UHT milk, and milk powder) using ELISA. The samples came from dairy plants within a single operating zone. The A1 variant was significantly more frequent (13.69–22.41 ng/mL) than the A2 variant (8.10–12.60 ng/mL), although the local Holstein cattle population had a higher frequency of the A2 allele (63%) than A1 (37%). This discrepancy could be due to a more efficient expression of the A1 allele in cows with heterozygous or A1A1 genotypes. BCM-7 levels were low and did not vary significantly with CSN2 genotype or processing method. These results provide new insights into the composition of dairy products and contribute to the ongoing debate on the health implications and consumer acceptance of milk with the A1 β-casein variant. Full article
(This article belongs to the Special Issue Role of Mutations and Polymorphisms in Various Diseases: 2nd Edition)
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11 pages, 932 KB  
Article
Early Insights from Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) Patients: An Observational Study on Polygenic Risk and Liver Biomarkers
by Pietro Torre, Benedetta Maria Motta, Tommaso Sarcina, Mariano Festa, Mario Masarone and Marcello Persico
Int. J. Mol. Sci. 2025, 26(17), 8426; https://doi.org/10.3390/ijms26178426 - 29 Aug 2025
Viewed by 467
Abstract
Metabolic dysfunction-associated steatotic liver disease (MASLD) is a growing public health concern influenced by both genetic and metabolic factors. Polygenic risk scores (PRSs), which combine the effects of known single-nucleotide polymorphisms (SNPs), may improve early risk stratification. We conducted an observational study on [...] Read more.
Metabolic dysfunction-associated steatotic liver disease (MASLD) is a growing public health concern influenced by both genetic and metabolic factors. Polygenic risk scores (PRSs), which combine the effects of known single-nucleotide polymorphisms (SNPs), may improve early risk stratification. We conducted an observational study on 298 MASLD patients: 148 from a Hepatology Unit and 150 from a Bariatric Surgery Unit. Genotyping was performed for the PNPLA3, TM6SF2, MBOAT7, and GCKR variants. A PRS was calculated and used to stratify patients by genetic risk. Liver fibrosis was assessed using the FIB-4 index, and a subset also underwent transient elastography. Clinical, biochemical, and anthropometric data were analyzed across genetic strata. PRSs showed positive correlations with AST, ALT, and FIB-4, indicating increased liver injury and fibrosis risk with higher genetic burden. Transaminases increased significantly across PRS quartiles (p < 0.05), and individuals with PRS > 0.532 exhibited elevated AST, ALT, and borderline FIB-4. Variant-specific associations included PNPLA3 with increased AST and MBOAT7 with higher hepatic steatosis (CAP). Subgroup analyses revealed distinct genetic and phenotypic patterns between the two clinical cohorts. These findings support the additive role of genetic risk in MASLD progression and underscore the value of polygenic profiling for the early identification and personalized management of high-risk patients. Full article
(This article belongs to the Special Issue Role of Mutations and Polymorphisms in Various Diseases: 2nd Edition)
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14 pages, 809 KB  
Article
Double Pathogenic or Likely Pathogenic Variants in Cancer Predisposition Genes in Hungarian Cancer Patients
by Tímea Pócza, János Papp, Anikó Bozsik, Vince Kornél Grolmusz, Petra Nagy, Attila Patócs and Henriett Butz
Int. J. Mol. Sci. 2025, 26(17), 8390; https://doi.org/10.3390/ijms26178390 - 29 Aug 2025
Viewed by 449
Abstract
Identification of two or more pathogenic/likely pathogenic (P/LP) variants in cancer susceptibility genes carried by the same patient have important consequences for patient management. We have limited information about the effect of double heterozygosity (DH) in cancer susceptibility genes. The prevalence of DH [...] Read more.
Identification of two or more pathogenic/likely pathogenic (P/LP) variants in cancer susceptibility genes carried by the same patient have important consequences for patient management. We have limited information about the effect of double heterozygosity (DH) in cancer susceptibility genes. The prevalence of DH among Hungarian cancer patients referred to oncogenetic counselling, and comparison of their phenotypes to single variant carriers were performed. In total, 2050 patients were analysed by multigene panel sequencing. Variants of 48 established cancer predisposition genes by ACMG guidelines were evaluated. In overall, P/LP variants were found in 19.8% of cases. DH was observed in 16 cases, amount to 0.8% of all patients, and to 4.0% of positive cases. Appearance of multiple primary tumours was not associated with DH compared to non-P/LP and single P/LP carriers (p = 0.71 and p = 0.54, respectively). Within a cohort of patients referred with suspected HBOC syndrome, earlier tumour formation was observed when DH cases were compared to non-P/LP carriers (p = 0.01), but difference between single and DH carriers was not statistically significant (p = 0.19; Bonferroni corrected alpha = 0.017). Our observations provide information about the incidence of DH status among Hungarian hereditary cancer patients and suggest that DH did not increase the risk of cancer compared to individuals with single P/LP mutation. Full article
(This article belongs to the Special Issue Role of Mutations and Polymorphisms in Various Diseases: 2nd Edition)
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