MTHFR Gene Variants, Symptoms, Natural Treatments
How This Helps
Your body consists of trillions of cells, each containing your genes--the set of instructions for making you who you are. Genes are sections of DNA, and every gene provides a specific set of instructions, usually coding for a particular protein or a specific function. Humans have approximately 20,000 genes, and among these is the MTHFR gene. Regrettably, 30-60% of people carry an MTHFR gene version, putting them at greater risk for preventable cardiovascular disease, colon cancer, stroke, Alzheimer's disease, and much more.
How do you know whether you've got an MTHFR variant and what can you do about it? Locate the most frequent symptoms, testing available, and the most effective natural treatments that will assist you in managing symptoms for the long term below.
What is MTHFR?
Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that functions as a catalyst for significant biochemical reactions in the body. It converts vitamin B9 (folate) to methyl-folate, which is critical for a process called methylation.
Each cell in your body undergoes methylation. Methylation protects your entire body by repairing damaged cells and optimizing DNA cell functioning. Additionally, it processes hormones and toxins, metabolizes B vitamins, and modulates receptors. The neurotransmitters, including dopamine, serotonin, and norepinephrine, control mood, behavior, sleep, and general mental health.
Among the main tasks, methylation performs turning homocysteine into methionine. Methionine builds proteins, repairs cells detoxify, supports your inflammatory reaction, and enables your liver process fats.
Most of all, methionine produces glutathione, your body's most potent detoxifier. Research indicates that people who have autoimmunity and cancer have lower levels of glutathione compared to individuals without those conditions — two Which suggests that they might have a genetic mutation associated with the MTHFR gene.
Furthermore, methionine is broken down by your liver to an inflammation-fighting agent known as SAM-e (s-adenosylmethionine). SAM-e helps break down neurotransmitters and helps with the fixing of cells.
Methylenetetrahydrofolate reductase (MTHFR) is a gene required necessarily for the metabolism of folates. Folates refer to vitamin B which is necessary for the development of DNA and other genetic material in the human body.
The MTHFR gene converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. The latter acts as a carbon donor in the remethylation of homocysteine to methionine. Methionine is an essential amino acid present in the body. Hence, the deficiency of MTHFR is responsible for a broad spectrum of clinical symptoms. 
What's an MTHFR mutation?
What's methylation & why is it significant?
The methylation process can help you detoxify heavy metals, and if there are mutations in MTHFR, someone can't detoxify their body efficiently. Heavy metals may then lie at the root of the autoimmunity or other chronic problems.
Our bodies are incredible, complex machines. Methylation permits some switches or physiological receptors to turn off and on to function efficiently. The exact same is a universal methyl molecule that donates a methyl (CH3) group to empower our cardiovascular, detoxification, and neurological systems to carry out. If methyl-folate isn't present, this procedure simply halts all production causing an array of symptoms.
Root causes of chronic ailments
MTHFR is a gene that offers the body with directions for making a particular enzyme called methylenetetrahydrofolate reductase (MTHFR). When you eat foods that have folic acid, MTHFR transforms it into methyl-folate (folate's active type). Methyl-folate is crucial to methylation, which helps to maximize an enormous number of processes in your body, such as the creation of DNA, metabolism of hormones, and appropriate detoxification.
There may be one abnormal variant (heterozygous) or 2 (homozygous), which can be passed from parents to their children. The more variations you have, the higher the number of issues your body will have with methylating.
An MTHFR gene mutation can alter how you metabolize and convert nutrients from the diet to active vitamins, minerals, and proteins that your body can utilize. This genetic mutation can also affect hormone and neurotransmitter levels, brain function, digestion, cholesterol levels, and much more.
MTHFR Mutation Symptoms
Severe deficiency of MTHFR may result in peripheral neuropathy, developmental delay, hypotonia, seizures, and thromboses. Fourteen rare mutations, along with a common polymorphism, i.e., C677T, have been found in patients with severe MTHFR deficiency. The genetic-nutrient interactive effect is measured as a risk factor for three major disorders: arteriosclerosis, neural tube defects, and colon cancer. 
A mild deficiency of MTHFR may lead to a mild case of hyperhomocysteinemia. The latter can be counted as an independent risk factor for occlusive arterial disease. 
Symptoms of an MTHFR gene mutation
MTHFR mutations affect everybody else, and symptoms may differ from long-term health problems to barely any noticeable changes in general health. Research has revealed an association between MTHFR mutations and Many health problems, including:
- ADHD (Attention Deficit Hyperactivity Disorder)
- Hormonal problems, including PCOS (Polycystic Ovary Syndrome)
- Autoimmune disorder and thyroid problems
- Heart disease
- Persistent fatigue
- Digestive issues, including IBS (Irritable Bowel Syndrome)
Studies have also found an association with an MTHFR mutation and depression and other mental health disorders. MTHFR produces a vital enzyme that converts folate to a form that plays a part in mood-regulating neurotransmitter production.
MTHFR mutation symptoms natural treatments
Natural remedies for MTHFR mutation symptoms
Having an MTHFR mutation does not automatically mean that you will experience the symptoms above. Symptoms depend on which version of this mutation you've got and whether the variations influence both your MTHFR genes.
Possessing the MTHFR mutation is a chance to make adjustments to your lifestyle and diet to make the most of your methylation, handle symptoms, and optimize your overall health.
1. Eat more folate and vitamin B12.
Consuming more folate in your diet can aid with methylation. Some of the finest whole-food sources of folate include dark leafy greens, avocado, and lentils.
People who have an MTHFR mutation are also at greater risk of being low in Vitamin B12. Vitamin B12 can be supplemented readily with no prescription, whether as isolated B12 or existing in multivitamins and B complex vitamins. Always check with your supplier what is ideal for you. Foods high in Vitamin B12 include legumes, nuts, beans, and nutritional yeast. Added foods that support healthy methylation include asparagus, broccoli, avocado, and legumes.
2. Support detoxification.
Since reduced methylation contributes to inadequate detoxification, it is important to encourage your body's natural elimination pathways.
3. Manage anxiety with diet & lifestyle modifications.
High-stress levels can exacerbate MTHFR mutation symptoms. Strategies for decreasing overall anxiety include beginning a normal meditation practice, journaling, spending time in nature, and volunteering.
Increase detoxification with the following guidelines:
- Eat a high fiber diet with 30-50 grams per day.
- Eat an anti-inflammatory diet full of vegetables, fantastic excellent protein, healthful fats, and veggies. Eliminate all refined sugars out of your daily diet.
- Exercise frequently, at least 3-5 times a week, including regular sauna treatments and Epsom salt baths.
Maintain your gut moving and remain well hydrated so you can make the most of your principal detox mechanisms, pee, and poop.
Take advantage of certain supplements, such as antioxidants, fiber, and phytonutrients that support detoxification.
Avoid exposure to toxins, such as chemical home cleaners that could inhibit methylation.
4. Cut alcohol.
Alcohol can make symptoms worse by interfering with methylation. If you choose to drink alcohol, drink tequila, vodka, and mezcal, as opposed to wine and beer.
5. Heal any underlying digestive troubles.
Healing your gut is important to enhancing methylation and bringing your body back to optimal general health. To enhance gut health and digestion, make changes to your diet & nutrition:
- Avoid intake of inflammatory foods like refined carbohydrates, trans fats, sugar, gluten, and dairy. Eat other gut-friendly foods, such as bone broth, organic vegetables and fruit, and flaxseeds and chia seeds.
- Eating fermented foods promotes a healthy microbiome. Foods such as kimchi, kefir, miso, and kombucha, help to keep healthy bacteria levels high in our gut and assist the digestion process.
- Eat more healthy fats. N-butyrate, a short-chain fatty acid, helps nourish the cells that line the gut and help them heal. You may get n-butyrate in the kind of Ayurvedic ghee or coconut oil.
6. Check your supplements.
Individuals with MTHFR mutations may have more trouble converting folic acid into its usable form, and this can cause symptoms to worsen. Check if your existing supplements include folic acid and stop taking them or change to another brand. Additional supplements that help support this genetic variant include magnesium, Vitamin D, and Vitamin B6.
Testing for the MTHFR gene mutation
A genetic test can determine whether you have an MTHFR gene mutation and which variant affects you.
If you think you may have an MTHFR mutation, work with a functional medicine health care provider that will order the right tests to help get to the root cause of your symptoms and rule out any other potential problems.
Studies in MTHFR gene mutation
Fetal Anticonvulsant Syndrome and Mutation in the Maternal MTHFR Gene
Mothers on the anticonvulsant therapies are reported to deliver babies with congenital malformation. Such babies suffer from 'fetal anticonvulsant syndrome.' Major syndromes accounted under this area are:
● Fetal phenytoin syndrome responsible for congenital heart disease, facial clefting, microcephaly, and fingernail hypoplasia
● Fetal carbamazepine syndrome responsible for characteristic face, development delay, neural tube defects, and fingernail hypoplasia
● Fetal valproate syndrome responsible for characteristic face, neural tube defects, congenital heart disease, cleft palate, genital abnormalities, and limb defects
All three anticonvulsants, i.e., valproate, carbamazepine, and phenytoin, interfere with folate metabolism. 
As we have already discussed, MTHFR is an essential gene in the pathway of folic acid metabolism. The C677T mutation in the MTHFR gene decreases the activity of the gene by making it thermolabile. It results in the deficiency of MTHFR, and hence, may cause neural tube defects. 
1. A study was conducted to determine the contribution of common C677T mutation in the MTHFR gene towards the fetal anticonvulsant syndrome. For this, a sample of 57 affected children and their parents was collected. It comprised the test group of mothers who have taken anticonvulsants during their pregnancy. Also, 152 samples from the control group were organized. The 57 affected subjects were exposed to the anticonvulsants. Later, the results revealed a significantly higher mutation in mothers taking anticonvulsants than in the control group. An excess of C677T homozygotes could be reported in mothers. However, there was only a marginal difference in the frequency of C677T mutation in the children and fathers from their control group. Although the children had an increased incidence of C677T heterozygotes, it did not reach significant excess. Therefore, the study suggested that fetal anticonvulsant syndrome may be associated with a level of maternal MTHFR genotype. Also, the slight exaggeration of heterozygote in the children could be the consequence of this association. 
2, Risk of mortality in Men is Associated with a Common Mutation in the Methylenetetrahydrofolate Reductase Gene (MTHFR)
The elevated levels of homocysteine due to the MTHFR mutation can lead to several cardiovascular disorders. A study revealed that every 5µmol/l increase in the plasma concentration of homocysteine increases the risk of coronary artery disease by 60% in men and 80% in women. 
3. MTHFR treatment -The elevated levels of homocysteine can be lowered down by folic acid supplementation. 
A study was conducted to measure the association of MTHFR mutation with the mortality rate. It was performed by comparing the MTHFR mutation between 365 subjects aged 85 years above and 250 young ones aged 18-40 years. The study was prolonged for a duration of ten years. The results conveyed a significantly lower frequency of MTHFR mutation in elderly patients than in the younger ones. The difference in genotype was significantly lower in elderly males than compared with young males, but similar in elderly and young women. Therefore, the difference in genotype distribution was found only in males. Up to the age of 85, the mortality risk in men was 3.7, whereas the rate increased 2.0 fold over the age of 85. Above 85, the cause of death is found to be cancer rather than heart diseases. However, no harmful effect was observed in women of any age. In conclusion, the MTHFR mutation can be said to be associated with the mortality in men of middle and old age, but not in women. 
Effects of Italian Mediterranean Organic Diet vs. Low-protein Diet in Nephropathic Patients According to MTHFR Genotypes
The following study aimed to measure the impact of an Italian Mediterranean Organic Diet (IMOD) vs. low-protein diet (LPD) in chronic kidney disease (CKD) patients. The results were measured according to the patient's carrier status for the methylenetetrahydrofolate reductase (MTHFR) C677T mutation. 
Methods: 40 subjects divided into CKD patients and healthy renal status were enrolled for the study. They were classified according to the MTHFR polymorphism as carrier T(+) or non-carrier T(-). Before the study, patients were following the low-protein diet. The investigation continued with the IMD (T1) for 14 days. Later, IMOD was started on patients for 14 days (T2).
Results: The baseline homocysteine levels were significantly different among T(+) and T(-) participants. It was higher in T(+) subjects than T(-). Among T(-) patients, the homocysteine levels for IMD did not differ from LPD, while it was significantly lower for IMOD. Among T(+) patients, the homocysteine levels were considerably lower than LPD both for IMD and IMOD.
Discussion: IMD and IMOD diets have been proved as a successful alternative to the LPD in CKD patients. The effects of these diets seem to be influenced by MTHFR polymorphism. 
MTHFR mutation results in the increment of homocysteine levels due to the interference in the folate metabolism. Methylenetetrahydrofolate reductase gene is responsible for the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. The latter is accounted for the conversion of homocysteine into methionine. Therefore, MTHFR deficiency may lead to hyperhomocysteinemia. The significant effects due to this polymorphism could be classified majorly into three disorders: cardiovascular disorder, neural tube defects, and colon cancer. The C677T MTHFR mutation has also been related to the increased mortality rate in males due to heart diseases up to the age of 85 and colon cancer above 85 years. Further, the Italian Mediterranean Organic Diet (IMOD) has shown positive effects in reducing the homocysteine levels in MTHFR polymorphism carriers suffering from renal disorders.
1. Goyette, P., Pai, A., Milos, R., Frosst, P., Tran, P., Chen, Z., ... & Rozen, R. (1998). Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR). Mammalian Genome, 9(8), 652-656.
2. Dean, J. C., Moore, S. J., Osborne, A., Howe, J., & Turnpenny, P. D. (1999). Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene. Clinical genetics, 56(3), 216-220.
3. Heijmans, B. T., Gussekloo, J., Kluft, C., Droog, S., Lagaay, A. M., Knook, D. L., ... & Slagboom, E. P. (1999). Mortality risk in men is associated with a common mutation in the methylenetetrahydrofolate reductase gene (MTHFR). European Journal of Human Genetics, 7(2), 197.
4. Di Daniele, N., Di Renzo, L., Noce, A., Iacopino, L., Ferraro, P. M., Rizzo, M., ... & De Lorenzo, A. (2014). Effects of Italian Mediterranean organic diet vs. low-protein diet in nephropathic patients according to MTHFR genotypes. Journal of nephrology, 27(5), 529-536.
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