The MTHFR Gene
The MTHFR gene is a gene that provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme is involved in a process called methylation, which is important for various biochemical reactions in the body, including the conversion of the amino acid homocysteine to methionine.
Certain variations or mutations (we call these SNPs or “snips”) in the MTHFR gene can affect the enzyme's activity and may lead to elevated levels of homocysteine in the blood. Elevated homocysteine levels have been associated with an increased risk of certain health conditions, such as cardiovascular disease, stroke, and venous thromboembolism. 40% of the US population has one or more SNPs in the MTHFR gene!
Unfortunately, some studies have suggested a potential association between MTHFR gene mutations, specifically the C677T variant, and an increased risk of cognitive decline and neurodegenerative diseases such as Alzheimer's disease and vascular dementia.
But having an MTHRF SNP is not a guarantee of developing dementia or other types of cognitive decline. Cognitive decline is a complex condition influenced by multiple genetic, environmental, and lifestyle factors. MTHFR mutations are just one piece of the puzzle, and their contribution to cognitive decline may vary from person to person. Other factors, such as age, cardiovascular health, diet, physical activity, APOE status, and other genetic variations, can also influence cognitive function and decline.
All of this means you can do things to reduce your risk: Lifestyle modifications, including a healthy diet, regular exercise, mental stimulation, and managing other risk factors, such as hypertension and diabetes, can play an essential role in maintaining cognitive health regardless of genetic predispositions. Supplementation can also help.
If you have an MTHFR mutation, it is important to note that the impact of the mutation can vary from person to person, and the supplementation recommendations should be personalized based on your specific needs, symptoms, lab results, vitamin levels, and overall health. That being said, here are some supplements that are commonly considered in individuals with MTHFR mutations:
L-methylfolate (5-MTHF): Since MTHFR mutations can affect the body's ability to convert folic acid into its active form (5-MTHF), supplementing with L-methylfolate can help bypass this step and provide the active form of folate directly. It is important to work with a functional medicine practitioner to determine the appropriate dosage.
Methylcobalamin (vitamin B12): MTHFR mutations can also impact the methylation cycle and affect the body's ability to utilize vitamin B12. Supplementing with methylcobalamin, the active form of vitamin B12, can help support methylation processes. Again, the dosage should be determined based on your specific needs.
B-complex vitamins: B vitamins work synergistically, and supplementing with a B-complex vitamin can provide a balanced combination of B vitamins, including folate (as L-methylfolate) and methylcobalamin. This can support overall methylation processes and address potential deficiencies.
Trimethylglycine (TMG): TMG, also known as betaine, can help support methylation by providing methyl groups. It can be considered in individuals with MTHFR mutations, particularly if there are issues with methylation or elevated homocysteine levels.
Eating lots of green leafy vegetables! Food can be therapeutic as well.
It is important to consult with a healthcare professional, such as a functional medicine doctor, nurse practitioner, or a registered dietitian, who is knowledgeable about MTHFR mutations and can assess your specific needs. They can recommend the appropriate supplements, dosages, and monitor your progress over time. Additionally, they can consider other factors such as your overall health, medication interactions, and potential nutrient deficiencies before making any recommendations.
Having an MTHFR SNP does not doom you to necessarily suffering Alzheimer’s later in life. You can do things to reduce your risk. The first step is to determine your genetic status through specialized testing at Tendwell. Depending on the results, we can craft a personalized health plan for you that includes specific supplementation and other therapies to manage risk. This is not something that should be put off: the sooner you start your journey to better health, the better your outcome will be.
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