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Research on Gene Mutations in Cancer and Chronic Diseases
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Research on Gene Mutations in Cancer and Chronic Diseases

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 July 2025 | Viewed by 1628

Special Issue Editor

Dr. Adam Szpechciński

E-Mail Website
Guest Editor
Department of Genetics and Clinical Immunology, The Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland
Interests: molecular biology; cancer research; next-generation sequencing; predictive biomarkers; epigenetics; bioinformatics

Special Issue Information

Dear Colleagues,

Research on gene mutations and their multifaceted consequences on cell function, metabolism, and pathogenesis of neoplastic and chronic diseases created the foundations of molecular medicine. Nowadays, the important discoveries of basic and translational research on altered gene/protein structures and functions have been widely utilized to develop molecularly targeted therapies of oncogene-addicted tumors and gene therapies of monogenic disorders and to validate multiple laboratory techniques for the analysis of predictive biomarkers on the DNA/RNA/protein level as companion diagnostics, altogether being elements of personalized treatment approach. Also, the rapid technological progress in methods of molecular and genetic analysis, e.g., next-generation sequencing (NGS), CRISPR, and Surface Plasmon Resonance (SPR) for protein interaction mapping, is of significance and drives the advances in research and clinics.

Accordingly, we expect that this IJMS Special Issue will become a scientific platform to present the most recent and cutting-edge finding in the broad field of research on gene mutations. We invite submissions of original research articles as well as reviews in the areas of basic, translational, and clinical research on gene mutations in human pathogenesis and physiology, including cancer and monogenic disorders. Except for results of clinical trials and Genome-Wide Association Studies (GWAS), we welcome biological, clinical, or theoretical model submissions with biomolecular experiments encompassing all aspects of gene mutations and methods of their analysis. Specifically, we encourage contributions to the following key areas of research:

  • Gene mutation (e.g., germline and somatic mutation, point mutations, frameshift mutations, gene copy number alterations, gene fusions) except for chromosomal aberrations;
  • Molecular basics of monogenic diseases (e.g., cystic fibrosis, neurofibromatosis type 1, alpha-1 antitrypsin deficiency);
  • Molecular cancer research (e.g., oncogenic alterations, prognostic/predictive biomarkers, targeted therapies, resistance mechanisms);
  • Molecular diagnostic techniques for gene mutation detection (e.g., next-generation sequencing);
  • Epigenetics and proteomics in relation to gene mutation;
  • Bioinformatics.

Dr. Adam Szpechciński
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.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • germline and somatic mutation
  • pathogenesis of cancer and chronic diseases
  • molecular techniques for gene mutation detection
  • biomarkers
  • molecular diagnostics
  • bioinformatics

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Published Papers (2 papers)

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25 pages, 7099 KiB  
Article
Repercussions of the Calpain Cleavage-Related Missense Mutations in the Cytosolic Domains of Human Integrin-β Subunits on the Calpain–Integrin Signaling Axis
by Reshma V. Kizhakethil, Ashok K. Varma, Sagar H. Barage, Neelmegam Ramesh Kumar, Kayalvizhi Nagarajan, Aruni Wilson Santhosh Kumar and Shashank S. Kamble
Int. J. Mol. Sci. 2025, 26(9), 4246; https://doi.org/10.3390/ijms26094246 (registering DOI) - 29 Apr 2025
Abstract
Calpains, calcium-dependent cytosolic cysteine proteases, perform controlled proteolysis of their substrates for various cellular and physiological activities. In different cancers, missense mutations accumulate in the genes coding for the calpain cleavage sites in various calpain substrates termed as the calpain cleavage-related mutations (CCRMs). [...] Read more.
Calpains, calcium-dependent cytosolic cysteine proteases, perform controlled proteolysis of their substrates for various cellular and physiological activities. In different cancers, missense mutations accumulate in the genes coding for the calpain cleavage sites in various calpain substrates termed as the calpain cleavage-related mutations (CCRMs). However, the impact of such CCRMs on the calpain–substrate interaction is yet to be explored. This study focuses on the interaction of wild-type and mutant β-integrins with calpain-1 and 2 in uterine corpus endometrial carcinoma (UCEC). A total of 48 calpain substrates with 176 CCRMs were retrieved from different datasets and shortlisted on the basis of their involvement in cancer pathways. Finally, three calpain substrates, ITGB1, ITGB3, and ITGB7, were selected to assess the structural changes due to CCRMs. These CCRMs were observed towards the C-terminal of the cytoplasmic domain within the calpain cleavage site. The wild-type and mutant proteins were docked with calpain-1 and 2, followed by molecular simulation. The interaction between mutant substrates and calpains showcased variations compared to their respective wild-type counterparts. This may be attributed to mutations in the calpain cleavage sites, highlighting the importance of the cytoplasmic domain of β-integrins in the interactions with calpains and subsequent cellular signaling. Highlights: 1. Calpain cleavage-related mutations (CCRMs) can alter cellular signaling. 2. CCRMs impact the structure of C-domains of human integrin-β subunits. 3. Altered structure influences the cleavability of human integrin-β subunits by human calpains. 4. Altered cleavability impacts the cell signaling mediated through calpain–integrin-β axis. 5. Presence of CCRMS may influence the progression of uterine corpus endometrial carcinoma (UCEC). Full article
(This article belongs to the Special Issue Research on Gene Mutations in Cancer and Chronic Diseases)
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15 pages, 2534 KiB  
Article
Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons
by Aurélien Perrin, Rocio Garcia-Uzquiano, Tanya Stojkovic, Céline Tard, Corinne Metay, Anne Bergougnoux, Charles Van Goethem, Corinne Thèze, Marion Larrieux, Héloise Faure-Gautron, Jocelyn Laporte, Guillaume Lefebvre, Martin Krahn, Raul Juntas-Morales, Titin’s Network Collaborators, Michel Koenig, Susana Quijano-Roy, Robert-Yves Carlier and Mireille Cossée
Int. J. Mol. Sci. 2024, 25(23), 12994; https://doi.org/10.3390/ijms252312994 - 3 Dec 2024
Viewed by 1318
Abstract
Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype–phenotype associations in titinopathies. [...] Read more.
Congenital titinopathies reported to date show autosomal recessive inheritance and are caused by a variety of genomic variants, most of them located in metatranscript (MTT)-only exons. The aim of this study was to describe additional patients and establish robust genotype–phenotype associations in titinopathies. This study involved analyzing molecular, clinical, pathological, and muscle imaging features in 20 patients who had at least one pathogenic or likely pathogenic TTN variant in MTT-only exons, with onset occurring antenatally or in the early postnatal stages. The 20 patients with recessive inheritance exhibited a heterogeneous range of phenotypes. These included fetal lethality, progressive weakness, cardiac or respiratory complications, hyper-CKemia, or dystrophic muscle biopsies. MRI revealed variable abnormalities in different muscles. All patients presented severe congenital myopathy at birth, characterized by arthrogryposis (either multiplex or axial–distal) or neonatal hypotonia in most cases. This study provides detailed genotype–phenotype correlations in congenital titinopathies caused by mutations in MTT-only exons. The findings highlight the variability in clinical presentation and the severity of phenotypes associated with these specific genetic alterations. RNA-seq analyses provided valuable insights into the molecular consequences of TTN variants, particularly in relation to splicing defects and nonsense-mediated RNA decay. In conclusion, this study reinforces the genotype–phenotype correlations between congenital myopathies and variants in TTN MTT-only exons, improves their molecular diagnosis, and provides a better understanding of their pathophysiology. Full article
(This article belongs to the Special Issue Research on Gene Mutations in Cancer and Chronic Diseases)
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