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Genes and Human Diseases: 3rd Edition
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Genes and Human Diseases: 3rd 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: 31 August 2025 | Viewed by 1068

Special Issue Editor

Prof. Dr. Mikhail I. Churnosov

E-Mail Website
Guest Editor
Department of Medical Biological Disciplines, Belgorod State University, 85 Pobedy Street, 308015 Belgorod, Russia
Interests: genes; human diseases; associations; biomarkers; bioinformatic analysis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue is a continuation of our previous Special Issue, “Genes and Human Diseases 2.0”. The study of the causes and mechanisms of human disease development, despite the numerous works carried out in this field, continues to be the focus of attention of various scientific research teams. The essential role of genetic factors in the formation of the vast majority of human diseases is beyond doubt. At the same time, despite the substantial accumulated factual material on this theme, there is no complete and definitive understanding of the pathogenetics of most human diseases at the moment. Often, the data obtained are not confirmed in subsequent studies, and in some cases, they are contradictory. It is necessary to continue further genetic-epidemiological studies in order to establish genetic factors that determine the susceptibility to various human diseases in different ethnic and territorial groups. Obtaining new data on the contribution of genetic factors to the formation of human diseases and the role of gene–gene and gene–environment interactions affecting the risk of developing diseases will significantly advance our understanding of the pathogenetics of diseases. Ultimately, this will create prerequisites for the use of candidate genes as effective biomarkers in practical medicine.This Special Issue will compile new data on the role of genetic factors in the formation of different human diseases to better-understand the genetic and molecular mechanisms of human disorder development.

Prof. Dr. Mikhail I. Churnosov
Guest Editor

Manuscript Submission Information

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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

  • genes
  • human diseases
  • genetic-epidemiological studies
  • genetic factors
  • susceptibility

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Published Papers (2 papers)

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Research

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21 pages, 1997 KiB  
Article
Genetic and Metabolic Factors of Familial Dysbetalipoproteinemia Phenotype: Insights from a Cross-Sectional Study
by Anastasia V. Blokhina, Alexandra I. Ershova, Anna V. Kiseleva, Evgeniia A. Sotnikova, Marija Zaicenoka, Anastasia A. Zharikova, Yuri V. Vyatkin, Vasily E. Ramensky, Elizaveta A. Novokhatskaya, Anna L. Borisova, Svetlana A. Shalnova, Alexey N. Meshkov and Oxana M. Drapkina
Int. J. Mol. Sci. 2025, 26(15), 7376; https://doi.org/10.3390/ijms26157376 - 30 Jul 2025
Viewed by 171
Abstract
Familial dysbetalipoproteinemia (FD) is a prevalent and highly atherogenic hyperlipoproteinemia associated with the ε2/ε2 APOE genotype or rare APOE variants. The contributions of additional genetic and clinical factors to the FD phenotype remain unclear. We investigated these factors in both autosomal recessive and [...] Read more.
Familial dysbetalipoproteinemia (FD) is a prevalent and highly atherogenic hyperlipoproteinemia associated with the ε2/ε2 APOE genotype or rare APOE variants. The contributions of additional genetic and clinical factors to the FD phenotype remain unclear. We investigated these factors in both autosomal recessive and autosomal dominant forms of FD. Targeted (n = 4666) and exome (n = 194) sequencing were used to identify the ε2/ε2 APOE genotype or rare FD-causative APOE variants. Twenty-four lipid-related genes and forty variants included in a polygenic risk score for hypertriglyceridemia (HTG) were analyzed. FD was defined by the presence of FD variants and triglycerides (TG) ≥ 1.5 mmol/L (main study group). The comparison group consisted of patients with FD variants but TG < 1.5 mmol/L. Univariable and multivariable regression analyses were performed. A total of 71 unrelated subjects were identified (45.1% male, median age 50 years). FD was diagnosed in 52 patients, while 19 had FD variants only. Age (p = 0.019), elevated polygenic risk for HTG (p = 0.001), and the presence of metabolic syndrome components (p = 0.014) were independently associated with the FD phenotype. TG levels were significantly associated with polygenic burden (0.05 mmol/L per percentile), the presence of additional rare lipid-related variants (7.0 mmol/L), and glucose metabolism disorders (3.62 mmol/L), together explaining 30% of TG variance in cross-validated model. These results highlight the interplay of genetic and metabolic factors in FD development and support the integration of HTG genetic risk scores and metabolic control into personalized FD management. Full article
(This article belongs to the Special Issue Genes and Human Diseases: 3rd Edition)
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Review

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38 pages, 1630 KiB  
Review
Gene Therapy Approaches for Atherosclerosis Focusing on Targeting Lipid Metabolism and Inflammation
by Evgeny Bezsonov, Nikita Chernyi, Mane Saruhanyan, Dariia Shimchenko, Nikolai Bondar, Darina Gavrilova, Mirza S. Baig and Alexander Malogolovkin
Int. J. Mol. Sci. 2025, 26(14), 6950; https://doi.org/10.3390/ijms26146950 - 19 Jul 2025
Viewed by 491
Abstract
Atherosclerosis is a complex disease characterized by pathological thickening of the arterial intima. The mechanisms underlying the induction and progression of atherosclerosis are convoluted and remain under active investigation, with key components such as lipid accumulation and local inflammation being identified. Several risk [...] Read more.
Atherosclerosis is a complex disease characterized by pathological thickening of the arterial intima. The mechanisms underlying the induction and progression of atherosclerosis are convoluted and remain under active investigation, with key components such as lipid accumulation and local inflammation being identified. Several risk factors (e.g., metabolic disorders, genetic background, diet, infections) have been shown to exacerbate disease progression, but their roles as clinically relevant markers remain to be established. Despite the growing body of evidence on the molecular pathogenesis of atherosclerosis, there is no effective preventive treatment against the development of this disease. In this review, we focus on gene targets for gene therapy as a novel potential approach to cure and prevent atherosclerosis. We critically review recent research demonstrating the therapeutic potential of viral vector-based (adeno-associated virus (AAV) and lentivirus) gene therapy for the treatment of atherosclerosis. We also summarize alternative gene targets and approaches (e.g., non-coding RNA (ncRNA), micro RNA (miRNA), small interfering RNA (siRNA), antisense oligonucleotide (ASO), CRISPR/Cas9) that aim to limit disease progression. We highlight the importance of local inflammation in the pathogenesis of atherosclerosis and propose gene targets with anti-inflammatory activity to inhibit the pathological inflammatory response. In addition, we provide perspectives on the future development of gene therapeutics and their potential applications. We anticipate that recent advances in gene therapy will help to identify new and effective targets to prevent atherosclerosis. Full article
(This article belongs to the Special Issue Genes and Human Diseases: 3rd Edition)
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