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New Perspectives on Biology in Forensic Diagnostics
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New Perspectives on Biology in Forensic Diagnostics

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

Deadline for manuscript submissions: closed (20 February 2025) | Viewed by 4244

Special Issue Editor

Dr. Isabella Aquila

E-Mail Website
Guest Editor
Institute of Legal Medicine, Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, 88100 Catanzaro, Italy
Interests: poisoning; toxicity; forensic toxinology; forensic science; legal medicine; domestic violence
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Forensic science has undergone remarkable development in recent years thanks to the advancement of numerous new diagnostic technologies for cadavers. Today, the study of a forensic case begins with an autopsy as a gold-standard investigation but also includes other tests, including forensic histopathology, immunohistochemistry, forensic radiology, and forensic toxicology. Although in a living patient, diagnostics include standard operating protocols with well-defined laboratory investigations (as in the case of cardiac triage), similar laboratory protocols have not yet been defined in forensic pathology. In recent years, strong interest has been shown in scientific research into applications of biology and biochemistry technologies using biological samples taken from cadavers. These investigations have seen the advancement of new fields, such as forensic proteomics, forensic genomics, and forensic epigenetics, opening up new fascinating scenarios in post-mortem diagnostics. In this direction, various studies have, for example, advanced the search for new post-mortem biomarkers. Thus, the potential contribution that post-mortem biology could make through the "forensic laboratory" is evident. The purpose of this Special Issue is to demonstrate the impacts of biology, forensic biochemistry, and laboratory investigations in general in post-mortem diagnostics and forensic sciences. Contributions on the following topics are welcome:

  • Post-mortem biology;
  • Post-mortem biochemistry;
  • Forensic laboratory work;
  • Post-mortem interval;
  • Time of death;
  • Cause of death;
  • Forensic toxicology;
  • Analysis of injuries on cadavers;
  • Pathophysiology of death;
  • Forensic proteomics;
  • Forensic genetics;
  • Forensic genomics;
  • Study of DNA on cadavers;
  • Forensic epigenetics.

Dr. Isabella Aquila
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

  • forensic laboratory
  • post mortem interval
  • post-mortem biomarkers
  • forensic toxicology
  • forensic biology
  • forensic genetics

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Published Papers (5 papers)

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Research

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18 pages, 6688 KiB  
Article
Tryptophan-Derived Metabolites and Glutamate Dynamics in Fatal Insulin Poisoning: Mendelian Randomization of Human Cohorts and Experimental Validation in Rat Models
by Yuhao Yuan, Yu Liu, Shengnan Wang, Jiaxin Zhang, Xiangting Gao, Yiling Li, Zhonghao Yu and Yiwu Zhou
Int. J. Mol. Sci. 2025, 26(9), 4152; https://doi.org/10.3390/ijms26094152 - 27 Apr 2025
Viewed by 95
Abstract
Insulin overdose may cause hypoglycemic encephalopathy. In this study, Mendelian randomization was employed to analyze changes in the serum metabolites of patients with hypoglycemic encephalopathy, and metabolomics analysis was conducted to detect differential metabolites in the serum of a rat model of hypoglycemic [...] Read more.
Insulin overdose may cause hypoglycemic encephalopathy. In this study, Mendelian randomization was employed to analyze changes in the serum metabolites of patients with hypoglycemic encephalopathy, and metabolomics analysis was conducted to detect differential metabolites in the serum of a rat model of hypoglycemic encephalopathy induced by insulin overdose. The results indicated an overall upward trend in the tryptophan metabolism pathway in patients with hypoglycemic encephalopathy and rats with hypoglycemic encephalopathy caused by insulin overdose, while serum glutamate levels declined. The metabolic changes in the tryptophan pathway provide new insights into the impact of hypoglycemia on brain function. The related products of the tryptophan metabolism pathway have a certain diagnostic value for hypoglycemic encephalopathy and forensic identification of insulin overdose-induced hypoglycemic encephalopathy death. Full article
(This article belongs to the Special Issue New Perspectives on Biology in Forensic Diagnostics)
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13 pages, 1078 KiB  
Communication
Risk Factors and Genetic Insights into Coronary Artery Disease-Related Sudden Cardiac Death: A Molecular Analysis of Forensic Investigation
by Xiangwang He, Linfeng Li, Dianyi Zhou, Zhi Yan, Min Liu and Libing Yun
Int. J. Mol. Sci. 2025, 26(8), 3470; https://doi.org/10.3390/ijms26083470 - 8 Apr 2025
Viewed by 275
Abstract
Sudden cardiac death (SCD) is a major cause of mortality among patients with coronary artery disease (CAD). This study aimed to identify risk factors for CAD-related SCD (SCDCAD) through autopsy data and genetic screening with a particular emphasis on rare variants [...] Read more.
Sudden cardiac death (SCD) is a major cause of mortality among patients with coronary artery disease (CAD). This study aimed to identify risk factors for CAD-related SCD (SCDCAD) through autopsy data and genetic screening with a particular emphasis on rare variants (minor allele frequency < 0.01). We included 241 SCDCAD cases (mean age 54.6 ± 12.8 years, 74.7% male) verified by medico-legal examination and 241 silent CAD controls (mean age 53.6 ± 15.2 years, 25.3% female) who died from severe craniocerebral trauma. Information about death characteristics was obtained from questionnaires, police reports and autopsy data. Whole-exome sequencing was performed on myocardial tissue samples. Polygenic risk score (PRS) from a previously validated model was applied and rare variant pathogenicity was predicted using in silico tools. SCDCAD victims predominantly died at night and showed higher mortality rates during summer and winter months, with more complex coronary disease. Nocturnal time (adjusted odds ratio [AOR] = 3.53, 95% CI: 2.37–5.25, p < 0.001), winter (AOR = 2.06, 95% CI: 1.33–3.20, p = 0.001), multiple vessel occlusion (AOR = 1.79, 95% CI: 1.16–2.77, p = 0.009), right coronary artery stenosis (AOR = 2.38, 95% CI: 1.54–3.68, p < 0.001) and unstable plaque (AOR = 2.17, 95% CI: 1.46–3.23, p < 0.001) were identified as risk factors of SCDCAD. The PRS score was associated with a 60% increased risk of SCDCAD (OR = 1.632 per SD, 95%CI: 1.631–1.633, p < 0.001). Genetic analysis identified MUC19 and CGN as being associated with SCDCAD. We identified both hereditary and acquired risk factors that may contribute to cardiac dysfunction and precipitate SCD in CAD patients, thereby facilitating the prevention and early recognition of high-risk individuals. Full article
(This article belongs to the Special Issue New Perspectives on Biology in Forensic Diagnostics)
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16 pages, 2895 KiB  
Article
Unveiling the Forensic Potential of Oral and Nasal Microbiota in Post-Mortem Interval Estimation
by Ji Chen, Qi Wei, Fan Yang, Yanan Liu, Yurong Zhao, Han Zhang, Xin Huang, Jianye Zeng, Xiang Wang and Suhua Zhang
Int. J. Mol. Sci. 2025, 26(7), 3432; https://doi.org/10.3390/ijms26073432 - 6 Apr 2025
Viewed by 382
Abstract
Microbiota have emerged as a promising tool for estimating the post-mortem interval (PMI) in forensic investigations. The role of oral and nasal microbiota in cadaver decomposition is crucial; however, their distribution across human cadavers at different PMIs remains underexplored. In this study, we [...] Read more.
Microbiota have emerged as a promising tool for estimating the post-mortem interval (PMI) in forensic investigations. The role of oral and nasal microbiota in cadaver decomposition is crucial; however, their distribution across human cadavers at different PMIs remains underexplored. In this study, we collected 88 swab samples from the oral and nasal cavities of 10 healthy volunteers and 34 human cadavers. Using 16S rRNA gene sequencing, we conducted comprehensive analyses of the alpha diversity, beta diversity, and relative abundance distribution to characterize the microbial communities in both healthy individuals and cadavers at varying PMIs and under different freezing conditions. Random forest models identified Firmicutes, Proteobacteria, Bacteroidota, Actinobacteriota, and Fusobacteriota as potential PMI-associated biomarkers at the phylum level for both the oral and nasal groups, along with genus-level biomarkers specific to each group. These biomarkers exhibited nonlinear changes over increasing PMI, with turning points observed on days 5, 12, and 22. The random forest inference models demonstrated that oral biomarkers at both the genus and phylum levels achieved the lowest mean absolute error (MAE) values in the training dataset (MAE = 2.16 days) and the testing dataset (MAE = 5.14 days). Additionally, freezing had minimal impact on the overall phylum-level microbial composition, although it did affect the relative abundance of certain phyla. At the genus level, significant differences in microbial biomarkers were observed between frozen and unfrozen cadavers, with the oral group showing greater stability compared to the nasal group. These findings suggest that the influence of freezing should be considered when using genus-level microbial data to estimate PMIs. Overall, our results highlight the potential of oral and nasal microbiota as robust tools for PMI estimation and emphasize the need for further research to refine predictive models and explore the environmental factors shaping microbial dynamics. Full article
(This article belongs to the Special Issue New Perspectives on Biology in Forensic Diagnostics)
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13 pages, 3903 KiB  
Article
Spectroscopic Analysis of Tryptophan as a Potential Optical Biomarker for Estimating the Time of Death
by Emilia Gruszczyńska, Aneta Lewkowicz, Martyna Czarnomska, Joanna Koczur, Katarzyna Walczewska-Szewc, Michał Kaliszan, Łukasz Balwicki and Piotr Bojarski
Int. J. Mol. Sci. 2024, 25(23), 12915; https://doi.org/10.3390/ijms252312915 - 30 Nov 2024
Cited by 1 | Viewed by 1094
Abstract
The estimation of the time of death represents a highly complex and challenging task within the field of forensic medicine and science. It is essential to approach this matter with the utmost respect for human rights while acknowledging the inherent limitations of the [...] Read more.
The estimation of the time of death represents a highly complex and challenging task within the field of forensic medicine and science. It is essential to approach this matter with the utmost respect for human rights while acknowledging the inherent limitations of the current methods, which require continuous refinement and expansion. Forensic science recognizes the necessity to improve existing techniques and develop new, more accurate, and non-invasive procedures, such as physicochemical approaches, to enhance the precision and reliability of time of death determinations. This article proposes a novel, non-invasive method for estimating the time of death using a spectroscopic analysis of tryptophan. The initial phase of the study concerns the presentation of the spectroscopic properties of tryptophan at varying pH levels, with consideration given to the pH fluctuations that occur during the decomposition of cadavers. The findings confirm the stability of the spectroscopic properties at different environmental pH levels. Subsequently, preliminary trials were conducted on 15 healthy human volunteers, which demonstrated that tryptophan concentrations in fingerprint samples were within the detection limits using molecular spectroscopy techniques. The final objective was to ascertain whether the composition of the substance present on the skin surface of a deceased individual up to 48 h postmortem is comparable to that of the sweat–fatty substance in living individuals. This was confirmed by the absorption and emission spectral profiles, which showed overlapping patterns with those obtained from living volunteers. The most significant outcome at this stage was the demonstration of a considerable increase in emission intensity in the spectra for samples obtained approximately 48 h after death in comparison to that obtained from a sample taken approximately 24 h after death. This indicates a rise in the concentration of tryptophan on the skin surface as the postmortem interval (PMI) increases, which could serve as a basis for developing a tool to estimate the time of death. Full article
(This article belongs to the Special Issue New Perspectives on Biology in Forensic Diagnostics)
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Review

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11 pages, 246 KiB  
Review
Post Mortem Molecular Biomarkers of Asphyxia: A Literature Review
by Matteo Antonio Sacco and Isabella Aquila
Int. J. Mol. Sci. 2024, 25(21), 11607; https://doi.org/10.3390/ijms252111607 - 29 Oct 2024
Cited by 2 | Viewed by 1741
Abstract
Asphyxia is a critical condition characterized by inadequate oxygen supply to the body. Post mortem diagnostics of asphyxia present significant challenges in forensic pathology, particularly when there are equivocal signs during autopsy or uncertain circumstantial data. The identification of biochemical biomarkers that indicate [...] Read more.
Asphyxia is a critical condition characterized by inadequate oxygen supply to the body. Post mortem diagnostics of asphyxia present significant challenges in forensic pathology, particularly when there are equivocal signs during autopsy or uncertain circumstantial data. The identification of biochemical biomarkers that indicate asphyxia has emerged as a promising area of research, as these markers can provide vital insights into the physiological changes occurring at the cellular level during asphyxiation. We performed a review of the scientific literature on the search engines Pubmed and Scopus in order to assess the state of the art on this topic. The aim of this study is to analyze which are the most promising markers and methods in the post mortem diagnosis of asphyxia. The literature review highlighted the great potential that molecular investigations can have in the analysis of this type of death, especially considering that hypoxia determines strong biochemical alterations in response to cellular stress. These changes are marked by specific biochemical alterations, which can be detected through various advanced technologies and methodologies, including mass spectrometry, immunohistochemistry, and metabolomic profiling. The review evidenced a combination of markers that can be used for diagnostic purposes in various cases, including mechanical asphyxia, carbon monoxide (CO) poisoning, perinatal asphyxia, and drowning analysis. However, we highlight that, to date, there are still no standard protocols for forensic biochemistry in asphyxia. By scrutinizing the reliability of identified biomarkers and their potential to reshape forensic investigative practices, this research aims to elucidate the critical role that post mortem biochemical analysis can play in diagnosing asphyxia, ultimately contributing to a more nuanced understanding of death-related scenarios and the development of standardized protocols in forensic examinations. Full article
(This article belongs to the Special Issue New Perspectives on Biology in Forensic Diagnostics)
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