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Genetic Advances in Gastrointestinal Diseases
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Genetic Advances in Gastrointestinal Diseases

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: closed (15 September 2024) | Viewed by 7941

Special Issue Editor

Prof. Dr. Andrzej Pławski

E-Mail Website
Guest Editor
Institute of Human Genetics of the Polish Academy of Sciences, Poznan, Poland
Interests: gastrointestinal diseases; digestive system; genetic; inflammatory bowel diseases; Celiac disease; food intolerances; Hirschsprung's disease

Special Issue Information

Dear Colleagues, 

The proper functioning of the digestive system is determined by genetic predispositions and factors affecting the organism during its development. Many gastrointestinal diseases and conditions are inherited. Among the clinical problems associated with the gastrointestinal tract, in adults and children, are predisposition to cancer (polyposis, Lynch syndrome pancreatic cancer, liver cancer), inflammatory bowel diseases, and autoimmune diseases (Celiac disease), but food intolerances are also of significant importance. Disorders of the liver (hepatitis, Gibert syndrome), pancreas (pancreatitis) and Hirschsprung's disease are also genetically determined. The genetic basis of complex symptom-based disorders, including symptoms from the gastrointestinal tract, is also not fully understood. The field of interest in this International Journal of Molecular Sciences Special Issue on "Genetic Advances in Gastrointestinal Diseases" encompasses the genetic basis of the development and physiological activity of all elements of the gastrointestinal tract as well as modifier genes that may alter diseases' clinical course and therapeutic options for the patient.

Prof. Dr. Andrzej Pławski
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.

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Keywords

  • gastrointestinal diseases
  • digestive system
  • genetic
  • inflammatory bowel diseases
  • Celiac disease
  • food intolerances
  • Hirschsprung's disease

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Published Papers (4 papers)

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Research

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12 pages, 10408 KiB  
Article
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review
by Giovanna Forte, Antonia Lucia Buonadonna, Antonino Pantaleo, Candida Fasano, Donatella Capodiferro, Valentina Grossi, Paola Sanese, Filomena Cariola, Katia De Marco, Martina Lepore Signorile, Andrea Manghisi, Anna Filomena Guglielmi, Simonetta Simonetti, Nicola Laforgia, Vittoria Disciglio and Cristiano Simone
Int. J. Mol. Sci. 2023, 24(24), 17388; https://doi.org/10.3390/ijms242417388 - 12 Dec 2023
Cited by 1 | Viewed by 1985
Abstract
Classic galactosemia is an autosomal recessive inherited liver disorder of carbohydrate metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT). While a galactose-restricted diet is lifesaving, most patients still develop long-term complications. In this study, we report on a two-week-old female patient who [...] Read more.
Classic galactosemia is an autosomal recessive inherited liver disorder of carbohydrate metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT). While a galactose-restricted diet is lifesaving, most patients still develop long-term complications. In this study, we report on a two-week-old female patient who is a compound heterozygote for a known pathogenic variant (p.K285N) and a novel missense variant (p.A303D) in the GALT gene. Segregation analysis showed that the patient inherited the p.K285N pathogenic variant from her father and the p.A303D variant from her mother. A bioinformatics analysis to predict the impact of the p.A303D missense variant on the structure and stability of the GALT protein revealed that it may be pathogenic. Based on this finding, we performed a literature review of all GALT missense variants identified in homozygous and compound heterozygous galactosemia patients carrying the p.K285N pathogenic variant to explore their molecular effects on the clinical phenotype of the disease. Our analysis revealed that these missense variants are responsible for a wide range of molecular defects. This study expands the clinical and mutational spectrum in classic galactosemia and reinforces the importance of understanding the molecular consequences of genetic variants to incorporate genetic analysis into clinical care. Full article
(This article belongs to the Special Issue Genetic Advances in Gastrointestinal Diseases)
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10 pages, 771 KiB  
Article
NTHL1 Gene Mutations in Polish Polyposis Patients—Weighty Player or Vague Background?
by Natalia Grot, Marta Kaczmarek-Ryś, Emilia Lis-Tanaś, Alicja Kryszczyńska, Dorota Nowakowska, Anna Jakubiuk-Tomaszuk, Jacek Paszkowski, Tomasz Banasiewicz, Szymon Hryhorowicz and Andrzej Pławski
Int. J. Mol. Sci. 2023, 24(19), 14548; https://doi.org/10.3390/ijms241914548 - 26 Sep 2023
Cited by 2 | Viewed by 1727
Abstract
Multiple polyposes are heterogeneous diseases with different underlying molecular backgrounds, sharing a common symptom: the presence of transforming into cancerous intestinal polyps. Recent reports have indicated biallelic mutations in the NTHL1 gene, which is involved in base excision repair (BER), as predisposing to [...] Read more.
Multiple polyposes are heterogeneous diseases with different underlying molecular backgrounds, sharing a common symptom: the presence of transforming into cancerous intestinal polyps. Recent reports have indicated biallelic mutations in the NTHL1 gene, which is involved in base excision repair (BER), as predisposing to an elevated risk of colorectal cancer (CRC). We aimed to evaluate the significance of the p.Q82* truncating variant in predisposition to intestinal polyposis by assessing its frequency in polyposis patients. We genotyped 644 Polish patients and 634 control DNA samples using high-resolution melting analysis (HRM) and Sanger sequencing. We found the p.Q82* variant in four polyposis patients; in three, it was homozygous (OR = 6.90, p value = 0.202). Moreover, the p.R92C mutation was detected in one patient. We also looked more closely at the disease course in patients carrying NTHL1 mutations. Two homozygous patients also presented other neoplasia. In the family case, we noticed the earlier presence of polyps in the proband and early hepatoblastoma in his brother. We cannot univocally confirm the relationship of p.Q82* with an increased risk of CRC. However, homozygous p.Q82* was more frequent by 10-fold in patients without other mutations identified, which makes NTHL1 gene screening in this group reasonable. Full article
(This article belongs to the Special Issue Genetic Advances in Gastrointestinal Diseases)
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24 pages, 3309 KiB  
Article
A Comprehensive Look at the -13910 C>T LCT Gene Polymorphism as a Molecular Marker for Vitamin D and Calcium Levels in Young Adults in Central and Eastern Europe: A Preliminary Study
by Magdalena Kowalówka, Grzegorz Kosewski, Daniel Lipiński and Juliusz Przysławski
Int. J. Mol. Sci. 2023, 24(12), 10191; https://doi.org/10.3390/ijms241210191 - 15 Jun 2023
Cited by 3 | Viewed by 2492
Abstract
Intolerance to dairy products resulting from the abnormal digestion of milk sugar (lactose) is a common cause of human gastrointestinal disorders. The aim of this study was to show that the -13910 C>T LCT gene polymorphism, together with genotypes of selected VDR gene [...] Read more.
Intolerance to dairy products resulting from the abnormal digestion of milk sugar (lactose) is a common cause of human gastrointestinal disorders. The aim of this study was to show that the -13910 C>T LCT gene polymorphism, together with genotypes of selected VDR gene polymorphisms and diet and nutritional status parameters, can impact the prevalence of vitamin D and calcium deficiency in young adults. This study was conducted on a group of 63 people, which comprised 21 individuals with primary adult lactase deficiency, and a control group of 42 individuals with no hypolactasia. The LCT and VDR gene genotypes were assessed using PCR restriction fragment length polymorphism (PCR-RFLP) analysis. A validated HPLC method was used to determine serum concentrations of 25(OH)D2 and 25(OH)D3. Atomic absorption spectrometry was used to determine calcium levels. Their diets (self-reported 7-day estimated food record), estimated calcium intakes based on the ADOS-Ca questionnaire and basic anthropometric parameters were assessed. The CC genotype associated with hypolactasia was found in 33.3% of the subjects. The presence of the CC variant of the LCT gene polymorphism in the study group of young Polish adults was found to be associated with significantly lower milk (134.7 ± 66.7 g/d vs. 342.5 ± 176 g/d; p = 0.012) and dairy product consumption (78.50 ± 36.2 g/d vs. 216.3 ± 102 g/d; p = 0.008) compared with lactase persistence. At the same time, people with adult-type primary intolerance were found to have statistically significant lower serum levels of vitamin D and calcium (p < 0.05). There was a higher chance of vitamin D and calcium deficiency and a lower intake in the group exhibiting lactase non-persistence (OR > 1). The AA variant of the VDR gene’s BsmI polymorphism present in people with hypolactasia may further contribute to an increased risk of vitamin D deficiency. Exclusion of lactose from the diet, combined with impaired vitamin D metabolism, may also lead to inhibited calcium absorption by the body. Further research should be carried out on a larger group of subjects to clarify the relationship between lactase activity and vitamin D and calcium levels in young adults. Full article
(This article belongs to the Special Issue Genetic Advances in Gastrointestinal Diseases)
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Review

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21 pages, 705 KiB  
Review
Low-Penetrance Susceptibility Variants in Colorectal Cancer—Current Outlook in the Field
by Marcin Szuman, Marta Kaczmarek-Ryś, Szymon Hryhorowicz, Alicja Kryszczyńska, Natalia Grot and Andrzej Pławski
Int. J. Mol. Sci. 2024, 25(15), 8338; https://doi.org/10.3390/ijms25158338 - 30 Jul 2024
Cited by 1 | Viewed by 1114
Abstract
Colorectal cancer (CRC) is one of the most frequent and mortality-causing neoplasia, with various distributions between populations. Strong hereditary predispositions are the causatives of a small percentage of CRC, and most cases have no transparent genetic background. This is a vast arena for [...] Read more.
Colorectal cancer (CRC) is one of the most frequent and mortality-causing neoplasia, with various distributions between populations. Strong hereditary predispositions are the causatives of a small percentage of CRC, and most cases have no transparent genetic background. This is a vast arena for exploring cancer low-susceptibility genetic variants. Nonetheless, the research that has been conducted to date has failed to deliver consistent conclusions and often features conflicting messages, causing chaos in this field. Therefore, we decided to organize the existing knowledge on this topic. We screened the PubMed and Google Scholar databases. We drew up markers by gene locus gathered by hallmark: oncogenes, tumor suppressor genes, genes involved in DNA damage repair, genes involved in metabolic pathways, genes involved in methylation, genes that modify the colonic microenvironment, and genes involved in the immune response. Low-penetration genetic variants increasing the risk of cancer are often population-specific, hence the urgent need for large-scale testing. Such endeavors can be successful only when financial decision-makers are united with social educators, medical specialists, genetic consultants, and the scientific community. Countries’ policies should prioritize research on this subject regardless of cost because it is the best investment. In this review, we listed potential low-penetrance CRC susceptibility alleles whose role remains to be established. Full article
(This article belongs to the Special Issue Genetic Advances in Gastrointestinal Diseases)
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