Impact of Genetic Mutations in Hyperhomocysteinemia and Metabolic Syndrome on Physiological Parameters and Quality of Life in Healthy Individuals.

Abstract

Background/aim: Hyperhomocysteinemia (HH) is a metabolic condition linked to cardiovascular and cognitive health risks. This study investigated the prevalence of HH and cardiovascular metabolic syndrome (MS) among patients with symptoms such as fatigue, joint pain, muscle weakness, vertigo, paresthesia, and aphthous stomatitis. The objective was to explore the associations between HH, MS, and quality of life, emphasizing the role of personalized dietary interventions.

Patients and methods: A prospective study was conducted between 2019 and 2023, including 86 patients aged 18 years or older who underwent nutrigenetic testing and provided anthropometric data. Participants were divided into three groups: those with HH (45.3%), those without HH or MS (31.4%), and those with MS but without HH (23.3%). Nutrigenetic analyses assessed genetic predispositions related to nutrient metabolism.

Results: Patients with HH exhibited reduced quality of life, with lower Short Form-12 Health Survey (SF-12) scores compared to other groups. Sex-specific nutrient needs and age-related changes in dietary requirements were identified. Metabolic conditions, including obesity, hypertension, and hypercholesterolemia, inversely impacted nutrient utilization. Physical activity positively correlated with higher demands for folic acid, vitamin B12, zinc, and magnesium.

Conclusion: Nutritional interventions targeting these needs effectively improved metabolic health and alleviated symptoms. HH significantly impacts quality of life and metabolic health. Personalized dietary and lifestyle modifications tailored to genetic predispositions, sex, and age are critical for mitigating cardiometabolic risks. These findings lay the groundwork for targeted interventions aimed at improving health outcomes in individuals with HH and MS.