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Advances in Nutrition, Genetics, and Metabolism to Improve Outcomes in Inherited Diseases

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

Deadline for manuscript submissions: 1 September 2026 | Viewed by 1430

Editors


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Guest Editor
Department of Human Health Sciences, College of Biological Sciences, University of Guelph, Guelph, ON, Canada
Interests: precison nutrition; metabolism; genetic conditions
Special Issues, Collections and Topics in MDPI journals

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Guest Editor Assistant
Department of Human Health Sciences, College of Biological Sciences, University of Guelph, Guelph, ON, Canada
Interests: nutrition; genetics; rare disease; phenylketonuria; nutritional genomics

Special Issue Information

Dear Colleagues,

Rapid advances in genomics and metabolic science are reshaping our understanding of rare diseases. This Special Issue highlights emerging research at the intersection of nutrition, genetics, and metabolism, with a focus on translational strategies that aim to improve patient outcomes. Topics include precision nutrition approaches in inherited conditions such as inborn errors of metabolism and others, metabolomic and multi-omic profiling to refine diagnosis and monitoring, and novel therapeutic targets informed by pathway-level biology. Particular emphasis is placed on the growing recognition of the relevance of genetic carriers of rare diseases, which may challenge the historical perspective that heterozygotes of certain rare genetic diseases are clinically unaffected. By integrating nutrition, genetics and metabolism, this issue aims to advance personalized care models, illuminate mechanisms driving inter-individual variability in inherited disease presentation and progression, and offer insights into precision nutrition-based intervention strategies.  

Dr. Jennifer M. Monk
Guest Editor

Dr. Justine Keathley
Guest Editor Assistant

Manuscript Submission Information

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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

  • nutrition
  • precision nutrition
  • personalized nutrition
  • nutritional genomics
  • transcriptomics
  • metabolomics
  • genetics
  • metabolism

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Published Papers (1 paper)

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15 pages, 559 KB  
Systematic Review
Interactions Between Blood Nutritional Biomarkers and Apolipoprotein E ε4 in the Progression of Mild Cognitive Impairment in Alzheimer’s Disease
by Rasheedat Lawal, Sanjay Kumar, Rosemary Chigevenga and Shelly Coe
Nutrients 2026, 18(8), 1263; https://doi.org/10.3390/nu18081263 - 16 Apr 2026
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Abstract
Background/Objectives: Mild cognitive impairment (MCI), the prodromal stage of Alzheimer’s disease, may be influenced by nutritional status and genetic susceptibility. This systematic review synthesised evidence on how nutritional biomarkers interact with genetic variants, particularly APOE ε4, to influence cognitive outcomes in individuals with [...] Read more.
Background/Objectives: Mild cognitive impairment (MCI), the prodromal stage of Alzheimer’s disease, may be influenced by nutritional status and genetic susceptibility. This systematic review synthesised evidence on how nutritional biomarkers interact with genetic variants, particularly APOE ε4, to influence cognitive outcomes in individuals with MCI. Methods: Following PRISMA 2020 guidelines, seven studies were included (three longitudinal, two randomised controlled trials, and two cross-sectional) involving adults aged ≥55 years with MCI. Nutritional exposures comprised plasma or serum concentrations of vitamins A, D, E, the vitamin B group, lipids, selenium, and ketogenic medium-chain triglycerides. Genetic risk was assessed primarily through APOE ε4 status. Risk of bias was assessed using RoB 2 and ROBINS-I, and certainty of evidence using GRADE. Due to heterogeneity in biomarkers, cognitive tools, and study designs, findings were synthesised narratively. Results: Across nutrient categories, higher concentrations of vitamin D, selenium, and antioxidants were associated with better cognitive outcomes. kMCT supplementation improved episodic memory and brain energy metabolism. Evidence for nutrient–gene interactions was mixed: APOE ε4 modified responses to vitamin B group and selenium but showed limited influence on vitamin D, lipids, or kMCT effects. Heterogeneity in biomarker assays, cognitive tools, and genetic stratification limited comparability across studies. Conclusions: Nutritional biomarkers appear to influence cognitive trajectories in MCI, and some associations may differ by APOE ε4 status. However, small samples and limited genetic stratification constrain interpretation. Future research should prioritise standardised biomarker measurement, genetically stratified cohorts, and individual participant data meta-analyses to clarify nutrient–gene interactions in MCI. Full article
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