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The Role of Genes Variation in Cancer and Other Pathologies
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The Role of Genes Variation in Cancer and Other Pathologies

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: closed (28 May 2024) | Viewed by 5156

Special Issue Editor

Dr. Chulso Moon

E-Mail Website
Guest Editor
1. Department of Otolaryngology-Head and Neck Surgery, The Johns Hopkins Medical Institution, Baltimore, MD 21205, USA
2. Principal Investigator HJM Cancer Research Foundation, Timonium, MD 21093, USA
Interests: genetics of human disease; cell models; animal models; novel therapeutics; disease screening; cancer; neuropsychiatric disease; autoimmune disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Family history is often one of the strongest risk factors for common disease complexes such as cancer, cardiovascular disease (CVD), diabetes, autoimmune disorders, and psychiatric illnesses. Inherited genetic variation within families clearly contributes both directly and indirectly to the pathogenesis of disease. For more than 100 years, human geneticists have been studying how variations in genes contribute to variations in disease risk. These studies take two approaches. The first approach focuses on identifying the individual genes with variations that give rise to simple Mendelian patterns of disease inheritance. The second approach seeks to understand the genetic susceptibility to disease as the consequence of the joint effects of many genes.

We are interested in reviews that describe general genetic studies uncovering various human diseases and underlying mechanistic studies using cell models and mice/other animal studies. We are also keen to discover the clinical applications of research endeavors, such as disease screening or the development of novel therapeutics. The subjects we are interested in covering are as follows:

  1. First group: genomic instability, cancer stem cells and microsatellite instability;
  2. Second group: genetics and neurobiology behind addiction and schizophrenia. autism spectrum disorders, post traumatic stress disorder and multiple sclerosis;
  3. Third group: genetics and cancer biology behind the susceptibility to the development of lung cancer, pancreatic cancer and prostate cancer.

However, any subjects that extend beyond the topics of these groups, such as studies of autoimmune disease or metabolic disease, will be welcome provided that such reviews are rigorous and indicate future research directions.

Dr. Chulso Moon
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

  • genetics of human disease
  • cell models
  • animal models
  • novel therapeutics
  • disease screening
  • cancer
  • neuropsychiatric disease
  • autoimmune disease

Related Special Issue

Published Papers (3 papers)

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Research

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13 pages, 447 KiB  
Article
Development of Multiplex Polymerase Chain Reaction (PCR)-Based MSA Assay for Bladder Cancer Detection
by Thomas Reynolds, Maxie Gordon, Gabriela Vanessa Flores Monar, David Moon and Chulso Moon
Int. J. Mol. Sci. 2023, 24(17), 13651; https://doi.org/10.3390/ijms241713651 - 4 Sep 2023
Cited by 2 | Viewed by 1227
Abstract
Several studies have shown that microsatellite changes can be profiled in the urine to detect bladder cancer. Microsatellite analysis (MSA) of bladder cancer detection requires a comprehensive analysis of up to 15–20 markers based on amplifying and interpreting many individual MSA markers, which [...] Read more.
Several studies have shown that microsatellite changes can be profiled in the urine to detect bladder cancer. Microsatellite analysis (MSA) of bladder cancer detection requires a comprehensive analysis of up to 15–20 markers based on amplifying and interpreting many individual MSA markers, which can be technically challenging. To develop fast, efficient, standardized, and less costly MSA to detect bladder cancer, we developed three multiplex polymerase chain reaction (PCR) based MSA assays, all of which were analyzed by a genetic analyzer. First, we selected 16 MSA markers based on nine publications. We developed MSA assays based on triplet or three-tube-based multiplex PCR (Triplet MSA assay) using samples from Johns Hopkins University (JHU Sample, first set of samples). In the second set of samples (samples from six cancer patients and fourteen healthy individuals), our Triplet Assay with 15 MSA markers correctly predicted all 6/6 cancer samples to be cancerous and 14/14 healthy samples to be healthy. Although we could improve our report with more clinical information from patient samples and an increased number of cancer patients, our overall results suggest that our Triplet MSA Assay combined with a genetic analyzer is a potentially time- and cost-effective genetic assay for bladder cancer detection and has potential use as a dependable assay in patient care. Full article
(This article belongs to the Special Issue The Role of Genes Variation in Cancer and Other Pathologies)
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22 pages, 3721 KiB  
Article
Comparison of Tumour-Specific Phenotypes in Human Primary and Expandable Pancreatic Cancer Cell Lines
by Feng Guo, Kejia Kan, Felix Rückert, Wolfgang Rückert, Lin Li, Johannes Eberhard, Tobias May, Carsten Sticht, Wilhelm G. Dirks, Christoph Reißfelder, Prama Pallavi and Michael Keese
Int. J. Mol. Sci. 2023, 24(17), 13530; https://doi.org/10.3390/ijms241713530 - 31 Aug 2023
Viewed by 1086
Abstract
There is an ongoing need for patient-specific chemotherapy for pancreatic cancer. Tumour cells isolated from human tissues can be used to predict patients’ response to chemotherapy. However, the isolation and maintenance of pancreatic cancer cells is challenging because these cells become highly vulnerable [...] Read more.
There is an ongoing need for patient-specific chemotherapy for pancreatic cancer. Tumour cells isolated from human tissues can be used to predict patients’ response to chemotherapy. However, the isolation and maintenance of pancreatic cancer cells is challenging because these cells become highly vulnerable after losing the tumour microenvironment. Therefore, we investigated whether the cells retained their original characteristics after lentiviral transfection and expansion. Three human primary pancreatic cancer cell lines were lentivirally transduced to create expandable (Ex) cells which were then compared with primary (Pri) cells. No obvious differences in the morphology or epithelial–mesenchymal transition (EMT) were observed between the primary and expandable cell lines. The two expandable cell lines showed higher proliferation rates in the 2D and 3D models. All three expandable cell lines showed attenuated migratory ability. Differences in gene expression between primary and expandable cell lines were then compared using RNA-Seq data. Potential target drugs were predicted by differentially expressed genes (DEGs), and differentially expressed pathways (DEPs) related to tumour-specific characteristics such as proliferation, migration, EMT, drug resistance, and reactive oxygen species (ROS) were investigated using the Kyoto Encyclopedia of Genes and Genomes (KEGG) database. We found that the two expandable cell lines expressed similar chemosensitivity and redox-regulatory capability to gemcitabine and oxaliplatin in the 2D model as compared to their counterparts. In conclusion, we successfully generated expandable primary pancreatic cancer cell lines using lentiviral transduction. These expandable cells not only retain some tumour-specific biological traits of primary cells but also show an ongoing proliferative capacity, thereby yielding sufficient material for drug response assays, which may provide a patient-specific platform for chemotherapy drug screening. Full article
(This article belongs to the Special Issue The Role of Genes Variation in Cancer and Other Pathologies)
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Review

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24 pages, 407 KiB  
Review
Molecular Markers for Bladder Cancer Screening: An Insight into Bladder Cancer and FDA-Approved Biomarkers
by Gabriela Vanessa Flores Monar, Thomas Reynolds, Maxie Gordon, David Moon and Chulso Moon
Int. J. Mol. Sci. 2023, 24(18), 14374; https://doi.org/10.3390/ijms241814374 - 21 Sep 2023
Cited by 7 | Viewed by 2344
Abstract
Bladder cancer is one of the most financially burdensome cancers globally, from its diagnostic to its terminal stages. The impact it imposes on patients and the medical community is substantial, exacerbated by the absence of disease-specific characteristics and limited disease-free spans. Frequent recurrences, [...] Read more.
Bladder cancer is one of the most financially burdensome cancers globally, from its diagnostic to its terminal stages. The impact it imposes on patients and the medical community is substantial, exacerbated by the absence of disease-specific characteristics and limited disease-free spans. Frequent recurrences, impacting nearly half of the diagnosed population, require frequent and invasive monitoring. Given the advancing comprehension of its etiology and attributes, bladder cancer is an appealing candidate for screening strategies. Cystoscopy is the current gold standard for bladder cancer detection, but it is invasive and has the potential for undesired complications and elevated costs. Although urine cytology is a supplementary tool in select instances, its efficacy is limited due to its restricted sensitivity, mainly when targeting low-grade tumors. Although most of these assays exhibit higher sensitivity than urine cytology, clinical guidelines do not currently incorporate them. Consequently, it is necessary to explore novel screening assays to identify distinctive alterations exclusive to bladder cancer. Thus, integrating potential molecular assays requires further investigation through more extensive validation studies. Within this article, we offer a comprehensive overview of the critical features of bladder cancer while conducting a thorough analysis of the FDA-approved assays designed to diagnose and monitor its recurrences. Full article
(This article belongs to the Special Issue The Role of Genes Variation in Cancer and Other Pathologies)
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