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Molecular Biology in Forensic Science: Past, Present and Future 2.0
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Molecular Biology in Forensic Science: Past, Present and Future 2.0

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 30 June 2024 | Viewed by 4144

Special Issue Editors

Dr. Francesco Sessa

E-Mail Website
Guest Editor
Department of Medical, Surgical and Advanced Technologies “G.F. Ingrassia”, University of Catania, 95121 Catania, Italy
Interests: genetics and molecular biology; forensic and biological sciences; forensic genetics; genomic physiology; aging and genetics; pharmacology; toxicology; health professions; translational pharmacology; biochemistry
Special Issues, Collections and Topics in MDPI journals
Dr. Monica Salerno

E-Mail Website
Guest Editor
Department of Medical, Surgical and Advanced Technologies “G.F. Ingrassia”, University of Catania, 95121 Catania, Italy
Interests: forensic sciences; clinical and forensic autopsy; crime scene investigation; post-mortem investigation; forensic pathology; histopathology; immunohistochemistry; medical risk management; ethics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Molecular biology represents one of the most valuable tools currently used in bioscience, diagnostics, and forensic sciences. It is important to remark that when considering the current and future trends in forensic molecular biology, it is important to do so not only from the perspective of their effects within the forensic field itself but also from the perspective of their interactions with the neighboring areas of the system, such as the diagnostic field. Forensic molecular biology has developed rapidly into a comprehensive discipline in its own right and, perhaps more so than any scientific advance before it, has had a profound impact across the forensic sciences. For example, forensic DNA analysis has vastly evolved since the first forensic samples were evaluated via restriction fragment length polymorphism (RFLP). Methodologies advanced from gel electrophoresis techniques to capillary electrophoresis, and now to next-generation sequencing (NGS). NGS is the newest and most revolutionary technology and has the potential to be the next standard for genetic analysis. In the same way, applications related to the use of microRNAs (miRNAs) represent a fascinating research field for both forensic and healthcare purposes.

In this regard, this Special Issue aims to collect accurate and up-to-date scientific information on all aspects of forensic molecular biology techniques and applications that are currently used for the analysis of human and nonhuman samples in the form of original research articles, case series and case reports, and reviews.

Dr. Francesco Sessa
Dr. Monica Salerno
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. 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 and molecular biology
  • forensic molecular biology
  • forensic and biological sciences
  • forensic genetics
  • aging and genetics
  • molecular biology and pharmacology
  • molecular biology and toxicology
  • translational pharmacology
  • biochemistry

Related Special Issue

Published Papers (5 papers)

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Research

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11 pages, 4297 KiB  
Communication
Assessment of Blood and Semen Detection and DNA Collection from Swabs up to Three Months after Deposition on Five Different Cloth Materials
by Francisco Medina-Paz, Brandon Kuba, Emily Kryvorutsky, Gabriela Roca and Sara C. Zapico
Int. J. Mol. Sci. 2024, 25(6), 3522; https://doi.org/10.3390/ijms25063522 - 20 Mar 2024
Viewed by 774
Abstract
Body fluid identification plays a crucial role in criminal investigations. Because of their presence in many cases, blood and semen are the most relevant body fluids in forensic sciences. Based on antigen–antibody reactions binding unique proteins for each body fluid, serological assays represent [...] Read more.
Body fluid identification plays a crucial role in criminal investigations. Because of their presence in many cases, blood and semen are the most relevant body fluids in forensic sciences. Based on antigen–antibody reactions binding unique proteins for each body fluid, serological assays represent one of the most rapid and highly specific tests for blood and semen. Currently, few studies have assessed the factors affecting body fluid identification by applying these assays. This work aimed to study the effect of different fabrics from clothes and time since deposition on identification through immunochromatographic tests for blood and semen, DNA isolation, and STR profiling from these samples. Body fluids were deposited on black- and white-dyed denim and cotton fabrics, and on leather. Afterward, blood and semen were sampled at 1 day, 30 days, and 90 days after deposition and identified by using the SERATEC® HemDirect Hemoglobin Test and the PSA Semiquant and SERATEC® BLOOD CS and SEMEN CS tests, respectively. Laboratory and crime scene tests presented similar performances for the detection of blood and semen stains on every tested fabric. No differences were found on band intensities between timepoints for all fabrics. It was possible to recover and identify blood and semen samples up to three months after deposition and to obtain full STR profiles from all the tested fabrics. Both body fluid STR profiles showed differences in their quality between 1 and 90 days after deposition for all fabrics except for black cotton for semen samples. Future research will expand the results, assessing body fluid identification on other substrates and under different environmental conditions. Full article
(This article belongs to the Special Issue Molecular Biology in Forensic Science: Past, Present and Future 2.0)
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19 pages, 23274 KiB  
Article
Phosphorylated CPI-17 and MLC2 as Biomarkers of Coronary Artery Spasm–Induced Sudden Cardiac Death
by Yiming Dong, Jianfeng Wang, Chenteng Yang, Junxia Bao, Xia Liu, Hao Chen, Xiaojing Zhang, Weibo Shi, Lihua Zhang, Qian Qi, Yingmin Li, Songjun Wang, Rufei Ma, Bin Cong and Guozhong Zhang
Int. J. Mol. Sci. 2024, 25(5), 2941; https://doi.org/10.3390/ijms25052941 - 03 Mar 2024
Viewed by 584
Abstract
Coronary artery spasm (CAS) plays an important role in the pathogeneses of various ischemic heart diseases and has gradually become a common cause of life-threatening arrhythmia. The specific molecular mechanism of CAS has not been fully elucidated, nor are there any specific diagnostic [...] Read more.
Coronary artery spasm (CAS) plays an important role in the pathogeneses of various ischemic heart diseases and has gradually become a common cause of life-threatening arrhythmia. The specific molecular mechanism of CAS has not been fully elucidated, nor are there any specific diagnostic markers for the condition. Therefore, this study aimed to examine the specific molecular mechanism underlying CAS, and screen for potential diagnostic markers. To this end, we successfully constructed a rat CAS model and achieved in vitro culture of a human coronary–artery smooth-muscle cell (hCASMC) contraction model. Possible molecular mechanisms by which protein kinase C (PKC) regulated CAS through the C kinase-potentiated protein phosphatase 1 inhibitor of 17 kDa (CPI-17)/myosin II regulatory light chain (MLC2) pathway were studied in vivo and in vitro to screen for potential molecular markers of CAS. We performed hematoxylin and eosin staining, myocardial zymogram, and transmission electron microscopy to determine myocardial and coronary artery injury in CAS rats. Then, using immunohistochemical staining, immunofluorescence staining, and Western blotting, we further demonstrated a potential molecular mechanism by which PKC regulated CAS via the CPI-17/MLC2 pathway. The results showed that membrane translocation of PKCα occurred in the coronary arteries of CAS rats. CPI-17/MLC2 signaling was observably activated in coronary arteries undergoing CAS. In addition, in vitro treatment of hCASMCs with angiotensin II (Ang II) increased PKCα membrane translocation while consistently activating CPI-17/MLC2 signaling. Conversely, GF-109203X and calphostin C, specific inhibitors of PKC, inactivated CPI-17/MLC2 signaling. We also collected the coronary artery tissues from deceased subjects suspected to have died of CAS and measured their levels of phosphorylated CPI-17 (p–CPI-17) and MLC2 (p-MLC2). Immunohistochemical staining was positive for p–CPI-17 and p-MLC2 in the tissues of these subjects. These findings suggest that PKCα induced CAS through the CPI-17/MLC2 pathway; therefore, p–CPI-17 and p-MLC2 could be used as potential markers for CAS. Our data provide novel evidence that therapeutic strategies against PKC or CPI-17/MLC2 signaling might be promising in the treatment of CAS. Full article
(This article belongs to the Special Issue Molecular Biology in Forensic Science: Past, Present and Future 2.0)
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12 pages, 2002 KiB  
Article
Estimation of Human Chronological Age from Buccal Swab Samples through a DNA Methylation Analysis Approach of a Five-Locus Multiple Regression Model
by Beatrice Marcante, Arianna Delicati, Martina Onofri, Pamela Tozzo and Luciana Caenazzo
Int. J. Mol. Sci. 2024, 25(2), 935; https://doi.org/10.3390/ijms25020935 - 11 Jan 2024
Viewed by 698
Abstract
Recent advancements in forensic genetics have facilitated the extraction of additional characteristics from unidentified samples. This study delves into the predictive potential of a five-gene (ELOVL2, FHL2, KLF14, C1orf132, and TRIM59) methylation rate analysis for human age [...] Read more.
Recent advancements in forensic genetics have facilitated the extraction of additional characteristics from unidentified samples. This study delves into the predictive potential of a five-gene (ELOVL2, FHL2, KLF14, C1orf132, and TRIM59) methylation rate analysis for human age estimation using buccal swabs collected from 60 Italian volunteers. The methylation levels of specific CpG sites in the five genes were analyzed through bisulfite conversion, single-base extension, and capillary electrophoresis. A multivariate linear regression model was crafted on the training set, then the test set was employed to validate the predictive model. The multivariate predictive model revealed a mean absolute deviation of 3.49 years in the test set of our sample. While limitations include a modest sample size, the study provides valuable insights into the potential of buccal swab-based age prediction, aiding in criminal investigations where accurate age determination is crucial. Our results also highlight that it is necessary to investigate the effectiveness of predictive models specific to biological tissues and individual populations, since models already proven effective for other populations or different tissues did not show the same effectiveness in our study. Full article
(This article belongs to the Special Issue Molecular Biology in Forensic Science: Past, Present and Future 2.0)
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Review

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19 pages, 1918 KiB  
Review
Arrhythmogenic Right Ventricular Cardiomyopathy Post-Mortem Assessment: A Systematic Review
by Vincenzo Cianci, Elena Forzese, Daniela Sapienza, Alessio Cianci, Antonio Ieni, Antonino Germanà, Maria Cristina Guerrera, Fausto Omero, Desirèe Speranza, Annalisa Cracò, Alessio Asmundo, Patrizia Gualniera and Cristina Mondello
Int. J. Mol. Sci. 2024, 25(5), 2467; https://doi.org/10.3390/ijms25052467 - 20 Feb 2024
Viewed by 730
Abstract
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder characterized by the progressive fibro-fatty replacement of the right ventricular myocardium, leading to myocardial atrophy. Although the structural changes usually affect the right ventricle, the pathology may also manifest with either isolated left ventricular [...] Read more.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder characterized by the progressive fibro-fatty replacement of the right ventricular myocardium, leading to myocardial atrophy. Although the structural changes usually affect the right ventricle, the pathology may also manifest with either isolated left ventricular myocardium or biventricular involvement. As ARVC shows an autosomal dominant pattern of inheritance with variable penetrance, the clinical presentation of the disease is highly heterogeneous, with different degrees of severity and patterns of myocardial involvement even in patients of the same familiar group with the same gene mutation: the pathology spectrum ranges from the absence of symptoms to sudden cardiac death (SCD) sustained by ventricular arrhythmias, which may, in some cases, be the first manifestation of an otherwise silent pathology. An evidence-based systematic review of the literature was conducted to evaluate the state of the art of the diagnostic techniques for the correct post-mortem identification of ARVC. The research was performed using the electronic databases PubMed and Scopus. A methodological approach to reach a correct post-mortem diagnosis of ARVC was described, analyzing the main post-mortem peculiar macroscopic, microscopic and radiological alterations. In addition, the importance of performing post-mortem genetic tests has been underlined, which may lead to the correct identification and characterization of the disease, especially in those ARVC forms where anatomopathological investigation does not show evident morphostructural damage. Furthermore, the usefulness of genetic testing is not exclusively limited to the correct diagnosis of the pathology, but is essential for promoting targeted screening programs to the deceased’s family members. Nowadays, the post-mortem diagnosis of ARVC performed by forensic pathologist remains very challenging: therefore, the identification of a clear methodological approach may lead to both a reduction in under-diagnoses and to the improvement of knowledge on the disease. Full article
(This article belongs to the Special Issue Molecular Biology in Forensic Science: Past, Present and Future 2.0)
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26 pages, 1627 KiB  
Review
Morphological and Genetic Aspects for Post-Mortem Diagnosis of Hypertrophic Cardiomyopathy: A Systematic Review
by Vincenzo Cianci, Elena Forzese, Daniela Sapienza, Luigi Cardia, Alessio Cianci, Antonino Germanà, Lorenzo Tornese, Antonio Ieni, Patrizia Gualniera, Alessio Asmundo and Cristina Mondello
Int. J. Mol. Sci. 2024, 25(2), 1275; https://doi.org/10.3390/ijms25021275 - 20 Jan 2024
Cited by 1 | Viewed by 998
Abstract
Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiovascular diseases, and it shows an autosomal dominant pattern of inheritance. HCM can be clinically silent, and sudden unexpected death due to malignant arrhythmias may be the first manifestation. Thus, the HCM diagnosis [...] Read more.
Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiovascular diseases, and it shows an autosomal dominant pattern of inheritance. HCM can be clinically silent, and sudden unexpected death due to malignant arrhythmias may be the first manifestation. Thus, the HCM diagnosis could be performed at a clinical and judicial autopsy and offer useful findings on morphological features; moreover, it could integrate the knowledge on the genetic aspect of the disease. This review aims to systematically analyze the literature on the main post-mortem investigations and the related findings of HCM to reach a well-characterized and stringent diagnosis; the review was performed using PubMed and Scopus databases. The articles on the post-mortem evaluation of HCM by gross and microscopic evaluation, imaging, and genetic test were selected; a total of 36 studies were included. HCM was described with a wide range of gross findings, and there were cases without morphological alterations. Myocyte hypertrophy, disarray, fibrosis, and small vessel disease were the main histological findings. The post-mortem genetic tests allowed the diagnosis to be reached in cases without morpho-structural abnormalities; clinical and forensic pathologists have a pivotal role in HCM diagnosis; they contribute to a better definition of the disease and also provide data on the genotype–phenotype correlation, which is useful for clinical research. Full article
(This article belongs to the Special Issue Molecular Biology in Forensic Science: Past, Present and Future 2.0)
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