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Advances in Nutrition for Genetic Disorders

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

Deadline for manuscript submissions: closed (20 October 2023) | Viewed by 3646

Special Issue Editor


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Guest Editor
Department of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands
Interests: phenylketonuria; amino acids; metabolism; phenylalanine; tyrosine; succinylacetion; tyrosinemia; pediatrics
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Special Issue Information

Dear Colleagues,

Dietary factors can interact with the genome in a number of ways. Nutrients can also modify gene expression indirectly via the modulation of gene-regulatory factors such as epigenetic markers, including the involvement of DNA methylation and miRNA. Importantly, nutrigenetics can impact the nutrigenomic and epigenetic responses, in part via their influence on the metabolome, and the sum of these events can modify disease risk. A mismatch between genes and diet inevitably leads to detrimental effects on health. The accumulation of such detrimental effects eventually manifests as chronic diseases such as neurological deficit, cardiovascular disease, diabetes, cancer, obesity, autoimmune diseases, rheumatoid arthritis, asthma, and depression.

Nutrigenetic research often takes a reductionist approach to gene–nutrient interactions, examining the interactions between single polymorphisms and individual disease biomarkers, and how they are modified by single nutrients or food components. An early application of nutrigenetics has been the diagnosis of conditions caused by monogenetic variants, such as hereditary lactose intolerance and phenylketonuria.

This Special Issue considers the interplay between diet, genes, the metabolome, and human health, with the aim of elucidating the role of nutrigenetics, nutrigenomics, and epigenetics in the prevention of non-communicable diseases. Furthermore, we focus on the mechanisms of the intergenerational or transgenerational transmission of susceptibility to metabolic disorders, and emphasize that the reversibility of epigenetic modifications through dietary interventions can counteract perturbations caused by lifestyle and environmental factors.

In this Special Issue, we welcome review articles and original research papers (observational or interventional studies) that explore advances in nutrition for genetic disorders.

Prof. Dr. Francjan J. Van Spronsen
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. Nutrients is an international peer-reviewed open access semimonthly 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 2900 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

  • nutrigenetics
  • nutrigenomics
  • epigenetics
  • gene–nutrient interaction

Published Papers (3 papers)

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Research

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15 pages, 1272 KiB  
Article
Associations between the Genetic Heritability of Dyslipidemia and Dietary Patterns in Korean Adults Based on Sex Differences
by Sei Kim, Hye Kyung Jeon, Gyeonghee Lee, Youbin Kim and Hae Young Yoo
Nutrients 2023, 15(20), 4385; https://doi.org/10.3390/nu15204385 - 16 Oct 2023
Viewed by 1030
Abstract
Dyslipidemia can be defined as an abnormality in serum lipid levels that is substantially linked to genetic variations and lifestyle factors, such as diet patterns, and has distinct sex-specific characteristics. We aimed to elucidate the genetic impact of dyslipidemia according to sex and [...] Read more.
Dyslipidemia can be defined as an abnormality in serum lipid levels that is substantially linked to genetic variations and lifestyle factors, such as diet patterns, and has distinct sex-specific characteristics. We aimed to elucidate the genetic impact of dyslipidemia according to sex and explore the associations between genetic variants and dietary patterns in large-scale population-based cohorts. After performing genome-wide association studies (GWASs) in male, female, and entire cohorts, significant single nucleotide polymorphisms (SNPs) were identified in the three groups, and genetic risk scores (GRSs) were calculated by summing the risk alleles from the selected SNPs. After adjusting for confounding variables, the risk of dyslipidemia was 2.013-fold and 2.535-fold higher in the 3rd quartile GRS group in the male and female cohorts, respectively, than in the 1st quartile GRS group. While instant noodle and soft drink intake were significantly associated with GRS related to hyperlipidemia in male cohorts, coffee consumption was substantially related to GRS related to hyperlipidemia in female cohorts. Considering the influence of genetic factors and dietary patterns, the findings of this study suggest the potential for implementing sex-specific strategic interventions to avoid dyslipidemia. Full article
(This article belongs to the Special Issue Advances in Nutrition for Genetic Disorders)
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18 pages, 1236 KiB  
Article
Impact of Lung-Related Polygenic Risk Scores on Chronic Obstructive Pulmonary Disease Risk and Their Interaction with w-3 Fatty Acid Intake in Middle-Aged and Elderly Individuals
by Ki-Song Kim and Sunmin Park
Nutrients 2023, 15(13), 3062; https://doi.org/10.3390/nu15133062 - 07 Jul 2023
Cited by 1 | Viewed by 1206
Abstract
Chronic obstructive pulmonary disease (COPD) is a complex, progressive respiratory disorder with persistent airflow limitation and tissue destruction. We aimed to explore the genetic impact of COPD and its interaction with nutrient intake in 8840 middle-aged and elderly individuals from the Ansan/Ansung cohorts. [...] Read more.
Chronic obstructive pulmonary disease (COPD) is a complex, progressive respiratory disorder with persistent airflow limitation and tissue destruction. We aimed to explore the genetic impact of COPD and its interaction with nutrient intake in 8840 middle-aged and elderly individuals from the Ansan/Ansung cohorts. Participants were diagnosed with COPD if the ratio of forced expiratory volume in 1 s (FEV1) to forced vital capacity (FVC) was less than 0.7 using spirometry, and if they were previously diagnosed with COPD by a physician. Genome-wide association studies (GWAS) were performed to screen for genetic variants associated with COPD risk. Among them, we selected the genetic variants that exhibited interactions using the generalized multifactor dimensionality reduction (GMDR) method. The polygenic risk score (PRS) was computed by summing the number of risk alleles in the SNP-SNP interaction models that adhered to specific rules. Subsequently, participants were categorized into low-PRS, medium-PRS, and high-PRS groups. The participants with COPD exhibited significantly lower FEV1/FVC ratios (0.64) than those without COPD (0.82). It was positively associated with inflammation markers (serum C-reactive protein and white blood cell levels). A higher proportion of COPD participants were smokers and engaged in regular exercise. The 5-SNP model consisted of FAM13A_rs1585258, CAV1_rs1997571, CPD_rs719601, PEPD_rs10405598, and ITGA1_rs889294, and showed a significant association with COPD risk (p < 0.001). Participants in the high-PRS group of this model had a 2.2-fold higher risk of COPD than those in the low-PRS group after adjusting for covariates. The PRS interacted with w-3 fatty acid intake and exercise, thus influencing the risk of COPD. There was an increase in COPD incidence among individuals with a higher PRS, particularly those with low consumption of w-3 fatty acid and engaged in high levels of exercise. In conclusion, adults with a high-PRS are susceptible to COPD risk, and w-3 fatty acid intake and exercise may impact the risk of developing COPD, potentially applying to formulate precision medicines to prevent COPD. Full article
(This article belongs to the Special Issue Advances in Nutrition for Genetic Disorders)
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Review

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14 pages, 563 KiB  
Review
Nutritional Approach in Selected Inherited Metabolic Cardiac Disorders—A Concise Summary of Available Scientific Evidence
by Alina Costina Luca, Ioana-Alexandra Pădureț, Viorel Țarcă, Simona Georgiana David, Dana Elena Mîndru, Solange Tamara Roșu, Eduard Vasile Roșu, Heidrun Adumitrăchioaiei, Jana Bernic, Elena Cojocaru and Elena Țarcă
Nutrients 2023, 15(22), 4795; https://doi.org/10.3390/nu15224795 - 16 Nov 2023
Viewed by 1087
Abstract
Inborn errors of metabolism (IMDs) are a group of inherited diseases that manifest themselves through a myriad of signs and symptoms, including structural or functional cardiovascular damage. The therapy of these diseases is currently based on enzyme-replacement therapy, chaperone therapy or the administration [...] Read more.
Inborn errors of metabolism (IMDs) are a group of inherited diseases that manifest themselves through a myriad of signs and symptoms, including structural or functional cardiovascular damage. The therapy of these diseases is currently based on enzyme-replacement therapy, chaperone therapy or the administration of supplements and the establishment of personalized dietary plans. Starting from the major signs identified by the pediatric cardiologist that can indicate the presence of such a metabolic disease—cardiomyopathies, conduction disorders or valvular dysplasias—we tried to paint the portrait of dietary interventions that can improve the course of patients with mitochondrial diseases or lysosomal abnormalities. The choice of the two categories of inborn errors of metabolism is not accidental and reflects the experience and concern of the authors regarding the management of patients with such diagnoses. A ketogenic diet offers promising results in selected cases, although, to date, studies have failed to bring enough evidence to support generalized recommendations. Other diets have been successfully utilized in patients with IMDs, but their specific effect on the cardiac phenotype and function is not yet fully understood. Significant prospective studies are necessary in order to understand and establish which diet best suits every patient depending on the inherited metabolic disorder. The most suitable imagistic monitoring method for the impact of different diets on the cardiovascular system is still under debate, with no protocols yet available. Echocardiography is readily available in most hospital settings and brings important information regarding the impact of diets on the left ventricular parameters. Cardiac MRI (magnetic resonance imaging) could better characterize the cardiac tissue and bring forth both functional and structural information. Full article
(This article belongs to the Special Issue Advances in Nutrition for Genetic Disorders)
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