Clinical applicability of nutrigenetics in a patient with APO E4 and MTHFR gene polymorphisms

Abstract

Background

Nutrigenetics supports precision in clinical practice by identifying genetic variants that determine individual metabolic response, enabling targeted dietary interventions.

Nutrigenetics supports precision in clinical practice by identifying genetic variants that determine individual metabolic response, enabling targeted dietary interventions.

Objective

To report the effects of a personalized nutritional intervention based on the genotypic profile on the cardiometabolic biomarkers of a patient carrying polymorphisms in the APOE ɛ4 and MTHFR genes.

To report the effects of a personalized nutritional intervention based on the genotypic profile on the cardiometabolic biomarkers of a patient carrying polymorphisms in the APOE ɛ4 and MTHFR genes.

Method

This is a descriptive clinical case report that included clinical, biochemical, and genotypic evaluation. Based on the identification of genetic polymorphisms, an individualized nutritional plan was developed, associated with supplementation based on the affected metabolic pathways, with monitoring of metabolic outcomes. The study was exempt from ethics approval.

This is a descriptive clinical case report that included clinical, biochemical, and genotypic evaluation. Based on the identification of genetic polymorphisms, an individualized nutritional plan was developed, associated with supplementation based on the affected metabolic pathways, with monitoring of metabolic outcomes. The study was exempt from ethics approval.

Results

Male patient, 58 years old, aviator, with an irregular eating routine and high intake of ultra-processed foods. Genotyping identified the APOE ɛ4 allele, associated with dyslipidemia and higher cardiovascular risk, and a polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene, related to alterations in folate metabolism and predisposition to hyperhomocysteinemia (HHcy). Initial exams demonstrated HHcy, hypercholesterolemia, elevated LDL, and reduced HDL. Nutritional management was based on a diet of 25 kcal/kg/day, with 1.5 g/kg of protein, 37% of carbohydrates, 39% of lipids with a predominance of unsaturated fatty acids, and 45 g/day of fibers, in addition to individualized supplementation with methylfolate, B-complex vitamins, vitamin D, magnesium, antioxidants, omega-3, and compounds related to methylation. Guidance was also provided regarding meal frequency, reduction of ultra-processed food consumption, dietary planning during flights, and encouraging regular intake of dark green leafy vegetables. Post-intervention, a reduction was observed in total cholesterol (212 vs. 189 mg/dL), LDL (141 vs. 108 mg/dL), and homocysteine (16.37 vs. 10.9 μmol/L in addition to an increase in HDL (47 vs. 53 mg/dL).

Male patient, 58 years old, aviator, with an irregular eating routine and high intake of ultra-processed foods. Genotyping identified the APOE ɛ4 allele, associated with dyslipidemia and higher cardiovascular risk, and a polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene, related to alterations in folate metabolism and predisposition to hyperhomocysteinemia (HHcy). Initial exams demonstrated HHcy, hypercholesterolemia, elevated LDL, and reduced HDL. Nutritional management was based on a diet of 25 kcal/kg/day, with 1.5 g/kg of protein, 37% of carbohydrates, 39% of lipids with a predominance of unsaturated fatty acids, and 45 g/day of fibers, in addition to individualized supplementation with methylfolate, B-complex vitamins, vitamin D, magnesium, antioxidants, omega-3, and compounds related to methylation. Guidance was also provided regarding meal frequency, reduction of ultra-processed food consumption, dietary planning during flights, and encouraging regular intake of dark green leafy vegetables. Post-intervention, a reduction was observed in total cholesterol (212 vs. 189 mg/dL), LDL (141 vs. 108 mg/dL), and homocysteine (16.37 vs. 10.9 μmol/L in addition to an increase in HDL (47 vs. 53 mg/dL).

Conclusion

The mapping of the APOE ɛ4 and MTHFR genes allowed the implementation of a targeted nutritional strategy that resulted in improvement in the parameters of the methylation pathway and lipid metabolism, reinforcing the clinical applicability of Nutrigenetics in individualized nutritional care.

The mapping of the APOE ɛ4 and MTHFR genes allowed the implementation of a targeted nutritional strategy that resulted in improvement in the parameters of the methylation pathway and lipid metabolism, reinforcing the clinical applicability of Nutrigenetics in individualized nutritional care.