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Relationship between Obesity-Related Genes, Metabolic Diseases and Dietary Nutrient Intake in Human

A special issue of Nutrients (ISSN 2072-6643). This special issue belongs to the section "Nutrigenetics and Nutrigenomics".

Deadline for manuscript submissions: closed (25 September 2024) | Viewed by 3888

Special Issue Editors


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Guest Editor
1. Department of Internal Medicine, Diabetology and Nephrology, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, 41-800 Zabrze, Poland
2. Laboratory of Cytogenetics and Molecular Genetics, Independent Public Clinical Hospital No. 1 in Zabrze, Medical University of Silesia in Katowice, 41-800 Zabrze, Poland
Interests: metabolic diseases; diabetes; obesity; osteoporosis; metabolic syndrome; genetic risk factor; molecular diagnostics; genotyping; nutrigenomics
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Guest Editor
Department of Propaedeutics of Internal Diseases and Emergency Medicine, Medical University of Silesia in Katowice, 41-902 Bytom, Poland
Interests: metabolic syndrome; oxidative stress; nutritional pro-oxidants and anti-oxidants; next generating sequence; autopgahy
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The effects of genes on metabolic diseases and their relationship to nutrients can be studied at many levels, e.g., genetic variant analysis, genome modification studies unrelated to changes in the nucleotide sequence, tissue-specific RNA or miRNA transcripts evaluations, autophagy and epigenetic research on proteins involved in biological processes.

Recently, several genetic variants associated with susceptibility to various metabolic diseases also related with dietary factors have been identified. Understanding these correlations may influence some metabolic diseases, and the use of appropriate nutritional interventions may modulate the progression or even prevent the disease. Genetic variant analysis has shown that in some carriers with preferential intake of certain nutrients, may negatively affect other beneficial nutrients and make dietary intervention more difficult. Therefore, it is important to understand the mechanisms and interactions between genes, metabolic diseases and nutrients.

This Special Issue aims to address this important topic. Researchers are invited to submit original research, protocol developments, methodological studies, narrative or systematic reviews and meta-analyses in relation to this topic.

Dr. Sylwia Górczyńska-Kosiorz
Dr. Sylwia Dzięgielewska-Gęsiak
Guest Editors

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Keywords

  • obesity-related risk factors
  • obesity
  • carbohydrate abnormalities
  • lipid disturbances
  • metabolic syndrome
  • metabolic disease
  • autophagy
  • next-generation sequence
  • genetics
  • nutrigenomics
  • proteomics
  • genetic polymorphisms
  • osteoporosis

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Published Papers (2 papers)

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Research

20 pages, 3234 KiB  
Article
Severity Ranking of Missense and Frameshift Genetic Variants in SCD1 by In Silico and In Vitro Functional Analysis
by Hanna K. Susán, Gabriella Orosz, Veronika Zámbó, Miklós Csala and Éva Kereszturi
Nutrients 2024, 16(19), 3259; https://doi.org/10.3390/nu16193259 - 26 Sep 2024
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Abstract
Background: A considerable proportion of the symptoms associated with excessive dietary intake can be attributed to systemic imbalances in lipid metabolism. The prominent toxicity of saturated fatty acids has been repeatedly demonstrated and sheds light on the protective role of stearoyl-CoA desaturase-1 (SCD1), [...] Read more.
Background: A considerable proportion of the symptoms associated with excessive dietary intake can be attributed to systemic imbalances in lipid metabolism. The prominent toxicity of saturated fatty acids has been repeatedly demonstrated and sheds light on the protective role of stearoyl-CoA desaturase-1 (SCD1), the key enzyme for fatty acid desaturation. SCD1 protein expression is regulated at the levels of transcription, translation, and degradation. However, the modulating effect of the variability of the human genome must also be taken into account. Therefore, we aimed to ascertain whether natural missense or frameshift mutations in SCD1 (p.H125P, p.M224L, p.A333T, p.R253AfsTer7) could influence the expression, degradation, or function of the enzyme. Methods: In silico and in vitro experiments were conducted to comprehensively evaluate the consequences associated with each genetic variation, with the objective of using the results to propose a risk or severity ranking of SCD1 variants. Results: As anticipated, the p.R253AfsTer7 variant was identified as the most deleterious in structural, functional, and quantitative terms. The p.H125P variant also reduced the desaturation capacity of the enzyme in accordance with the predicted structural alterations and augmented degradation resulting from folding complications. This was aggravated by increased mRNA instability and accompanied by mild endoplasmic reticulum stress induction. The p.A333T protein exhibited an intermediate phenotype, whereas p.M224L showed no deleterious effects and even increased the amount of SCD1. Conclusions: In conclusion, the large-scale identification of genetic variations needs to be supplemented with comprehensive functional characterization of these variations to facilitate adequate personalized prevention and treatment of lipid metabolism-related conditions. Full article
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12 pages, 560 KiB  
Article
Bone Mineral Density and the Risk of Type-2 Diabetes in Postmenopausal Women: rs4988235 Polymorphism Associated with Lactose Intolerance Effects
by Sylwia Górczyńska-Kosiorz, Edyta Cichocka, Paweł Niemiec, Wanda Trautsolt, Wojciech Pluskiewicz and Janusz Gumprecht
Nutrients 2024, 16(17), 3002; https://doi.org/10.3390/nu16173002 - 5 Sep 2024
Cited by 2 | Viewed by 1750
Abstract
Dairy products, a major source of calcium, demonstrate a number of beneficial effects, not only protecting against the development of osteoporosis (OP) but also suppressing the onset of type-2 diabetes (T2DM) and improving bone mineral density (BMD). Dairy consumption is closely linked to [...] Read more.
Dairy products, a major source of calcium, demonstrate a number of beneficial effects, not only protecting against the development of osteoporosis (OP) but also suppressing the onset of type-2 diabetes (T2DM) and improving bone mineral density (BMD). Dairy consumption is closely linked to lactose tolerance. One of the genetic factors predisposing individuals to lactose intolerance is rs4988235 polymorphism of the MCM6 gene. The aim of this reported study was to analyse the relationship between the rs4988235 variant of the MCM6 gene and bone mineral density and the risk of type-2 diabetes in women after menopause. Methods: The study was conducted among 607 female patients in the postmenopausal period in whom bone densitometry and vitamin-D3 levels were assayed and genotyping of the rs4988235 polymorphism of MCM6 gene was performed. The obtained results were analysed for the presence of T2DM, obesity surrogates, medical data, and past medical history. Results: The distribution of genotype frequencies was consistent with the Hardy–Weinberg equilibrium (p > 0.050). Postmenopausal women with the GG homozygote of rs4988235 polymorphism consumed significantly less calcium (dairy), which was probably related to the observed lactose intolerance. The GG homozygote of women with rs4988235 polymorphism was significantly more likely to have T2DM relative to the A allele carriers (p = 0.023). GG homozygotes had significantly lower femoral–vertebral mineral density despite the significantly more frequent supplementation with calcium preparations (p = 0.010), vitamin D (p = 0.01), and anti-osteoporotic drugs (p = 0.040). The obtained results indicate a stronger loss of femoral-neck mineral density with age in the GG homozygotes relative to the A allele carriers (p = 0.038). Conclusions: In the population of women after menopause, the carriage of the G allele of rs4988235 polymorphism of the MCM6 gene, i.e., among the patients with lactose intolerance, significantly increased the risk of developing T2DM and the loss of BMD. Full article
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