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Medicina
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Genomics and Proteomics in Gastrointestinal Disorders
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Genomics and Proteomics in Gastrointestinal Disorders

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Gastroenterology & Hepatology".

Deadline for manuscript submissions: closed (30 June 2024) | Viewed by 5530

Special Issue Editors

Dr. Cristian George Ţieranu

E-Mail Website
Guest Editor
Department of Gastroenterology, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, Romania
Interests: inflammatory bowel disease; immunology; genetics; molecular biology
Prof. Dr. Adrian Saftoiu

E-Mail Website
Guest Editor
Department of Gastroenterology, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, Romania
Interests: inflammatory bowel diseases; gastroenterology; chronic pancreatitis; elastography; EUS; liver cirrhosis; pancreatic cancer
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The complex orchestration of molecular mechanisms in gastrointestinal (GI) disorders has long been a topic of intrigue in the world of medical research. With the advent of advanced genomics and proteomics technologies, we are now poised to uncover the intricate genetic and protein interactions underpinning various GI disorders.

Traditionally, GI disorders were understood primarily through their physiological manifestations and a limited understanding of their molecular basis. However, the past two decades have seen a seismic shift in this paradigm. With the completion of the Human Genome Project at the turn of the century and the subsequent development of high-throughput proteomic techniques, the scientific community began to peer deeper into the genetic and proteomic landscapes of GI disorders.

This Special Issue, “Genomics and Proteomics in Gastrointestinal Disorders”, aims to collate and present cutting-edge research that bridges the knowledge gap between genomics, proteomics, and the clinical manifestations of GI disorders. It seeks to shed light on the underlying molecular mechanisms, offer potential biomarkers for diagnosis and prognosis, and possibly pave the way for personalized therapeutic strategies.

Recent advancements in next-generation sequencing, mass spectrometry, and bioinformatics tools have revolutionized our understanding of the genomic and proteomic profiles associated with GI disorders. This Special Issue will highlight such advancements, focusing on their implications in elucidating disease pathways, predicting disease progression, and guiding therapeutic interventions.

We invite researchers from across the globe to submit their original articles, review articles, case studies, and brief reports. Topics of interest include, but are not limited to:

  • Genetic and proteomic markers for early diagnosis of GI disorders;
  • Role of genomics and proteomics in understanding disease pathogenesis;
  • The interplay between the gut microbiome, genomics and proteomics;
  • Translational research bridging molecular findings with clinical outcomes;
  • Personalized therapeutic strategies based on genomic and proteomic profiles.

In conclusion, this Special Issue endeavors to provide a comprehensive platform for the latest insights into the role of genomics and proteomics in gastrointestinal disorders, fostering collaboration and driving developments in this critical area of medicine.

Dr. Cristian George Ţieranu
Prof. Dr. Adrian Saftoiu
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. Medicina is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). 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

  • genomics
  • transcriptomics
  • proteomics
  • autoimmune
  • gastrointestinal

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Published Papers (3 papers)

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Research

7 pages, 443 KiB  
Article
Mitochondrial DNA Copy Number Is Associated with the Severity of Irritable Bowel Syndrome
by Soo-Jung Jung, Jae-Ho Lee, Ji-Yeon Lim and Yun-Yi Yang
Medicina 2024, 60(10), 1605; https://doi.org/10.3390/medicina60101605 - 1 Oct 2024
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Abstract
Background and Objectives: Irritable bowel syndrome (IBS), as a gastrointestinal disorder, presents with abdomen pain and alterations in the bowel habits. Its pathogenesis remains unclear. Here, we examined mitochondrial DNA copy number (mtCN) in IBS and its clinical value. Materials and Methods [...] Read more.
Background and Objectives: Irritable bowel syndrome (IBS), as a gastrointestinal disorder, presents with abdomen pain and alterations in the bowel habits. Its pathogenesis remains unclear. Here, we examined mitochondrial DNA copy number (mtCN) in IBS and its clinical value. Materials and Methods: mtCN was analyzed in 43 IBS patients using quantitative real-time polymerase chain reaction. Furthermore, data on the clinical characteristics of patients and symptom severity of IBS were collected, and their association with mtCN was analyzed. Results: mtCN was higher in patients with IBS (p = 0.008) and those with a drinking habit (p = 0.004). Smoking and the presence of a sleep partner showed a possible association with mtCN; however, it did not reach significance. The severity of IBS symptoms tended to positively correlate with mtCN (r = 0.279, p = 0.070). Conclusions: Overall, we demonstrated a potential association between mtCN and the clinicopathologic characteristics of patients with IBS. Further studies considering genetic and clinical factors are required. Full article
(This article belongs to the Special Issue Genomics and Proteomics in Gastrointestinal Disorders)
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12 pages, 1555 KiB  
Article
Metabolic Proteins Expression Up-Regulated in Blood-Borne Extensively Drug-Resistant Salmonella Typhi Isolates from Pakistan
by Nusrat Yasin, Hazir Rahman, Muhammad Qasim, Iqbal Nisa, Yasra Sarwar, Niamat Khan, Khalid J. Alzahrani, Meshari A. Alsuwat, Fuad M. Alzahrani and Abrar Aljohani
Medicina 2024, 60(9), 1404; https://doi.org/10.3390/medicina60091404 - 27 Aug 2024
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Abstract
Background and Objectives: In the undertaken study, proteomics alterations of blood-borne XDR S. Typhi isolated from Pakistan were investigated using mass spectrometry. Materials and Methods: MDR and XDR S. Typhi total protein lysates were fractionated, digested, and processed for nanoflow LC-LTQ- [...] Read more.
Background and Objectives: In the undertaken study, proteomics alterations of blood-borne XDR S. Typhi isolated from Pakistan were investigated using mass spectrometry. Materials and Methods: MDR and XDR S. Typhi total protein lysates were fractionated, digested, and processed for nanoflow LC-LTQ-Orbitrap MS analysis. Results: Among the 1267 identified proteins, 37 were differentially regulated, of which 28 were up-regulated, and 9 were down-regulated in XDR S. Typhi as compared to MDR S. Typhi. Based on the functional annotation, proteins found up-regulated are involved mainly in metabolic pathways (ManA, FadB, DacC, GpmA, AphA, PfkB, TalA, FbaB, OtsA, 16504242), the biosynthesis of secondary metabolites (ManA, FadB, GlpB, GpmA, PfkB, TalA, FbaB, OtsA), microbial metabolism in diverse environments (FadB, GpmA, PfkB, NfnB, TalA, FbaB), and ABC transporters (PstS, YbeJ, MglB, RbsB, ArtJ). Proteins found down-regulated are involved mainly in carbon metabolism (FadB, GpmA, PfkB, FalA, FbaB) and the biosynthesis of amino acids (GpmA, PfkB, TalA, FbaB). Most of the identified differential proteins were predicted to be antigenic, and matched with resistome data. Conclusions: A total of 28 proteins were up-regulated, and 9 were down-regulated in XDR S. Typhi. Further characterization of the identified proteins will help in understanding the molecular signaling involved in the emergence of XDR S. Typhi. Full article
(This article belongs to the Special Issue Genomics and Proteomics in Gastrointestinal Disorders)
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11 pages, 743 KiB  
Article
Genetic Variants in Matrix Metalloproteinases MMP3 (rs3025058) and MMP9 (rs3918242) Associated with Colonic Diverticulosis
by Piotr Nehring, Grażyna Gromadzka, Miłosz Jastrzębski and Adam Przybyłkowski
Medicina 2023, 59(11), 2031; https://doi.org/10.3390/medicina59112031 - 17 Nov 2023
Cited by 2 | Viewed by 1616
Abstract
Background and Objectives: Diverticulosis affects a significant portion of the elderly population, with age and lifestyle being established risk factors. Additionally, genetic predisposition is gaining recognition as a contributing factor. This pilot study sought to explore the frequency of genetic variants in [...] Read more.
Background and Objectives: Diverticulosis affects a significant portion of the elderly population, with age and lifestyle being established risk factors. Additionally, genetic predisposition is gaining recognition as a contributing factor. This pilot study sought to explore the frequency of genetic variants in matrix metalloproteinases (MMPs) 3, 9, and 12 in a population of colonic diverticulosis patients. Materials and Methods: The study encompassed 134 participants: 59 diagnosed with colon diverticulosis during colonoscopy and 75 healthy controls. The cases and controls were meticulously matched in terms of age and gender. We assessed the distribution of genetic variants MMP3 rs3025058, MMP9 rs3918242, and MMP12 rs2276109 using the polymerase chain reaction–restriction fragments length polymorphism technique. Results: The MMP9 rs3918242 allele T was notably more frequent in individuals with diverticulosis when compared with the control group (p < 0.03). Furthermore, it was associated with dominant (OR = 2.62; 95% CI: 1.24–5.56; p < 0.01) and co-dominant (OR = 2.10; 95% CI: 1.06–4.13; p < 0.03) genetic models. The MMP3 rs3025058 5A/5A genotype was nearly twice as frequent in patients with diverticulosis, while the 6A/6A genotype was only half as common in this group. Conversely, no significant correlation was established between MMP12 rs2276109 and colonic diverticulosis. Conclusions: Our study offers the first insight into a potential connection between genetic variants in MMPs and colon diverticulosis. Specifically, allele T of MMP9 rs3918242 and allele 5A of MMP3 rs3025058 appear to be linked to this condition. These findings indirectly suggest a role for extracellular matrix proteins in the pathogenesis of diverticulosis. Full article
(This article belongs to the Special Issue Genomics and Proteomics in Gastrointestinal Disorders)
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