MTHFR Mutation and Methylation

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Methylation is a vital process for a person’s overall health and well-being because it is involved in so many different biochemical pathways in the body.

Having an MTHFR mutation doesn’t mean you will experience the symptoms or health issues. It is an opportunity to make changes to your diet and lifestyle to maximize your methylation, manage symptoms, and optimize your overall health. Symptoms depend on which variant of the mutation you have and whether the variations affect both your MTHFR genes.

Every human body contains the gene 5-methyltetrahydrofolate reductase, or MTHFR. The gene controls how folic acid is broken down and how much folate is produced in the body. If a person’s MTHFR gene is faulty or they don’t obtain enough folate, they may experience a number of health issues. This is especially important for women, because those who have the MTHFR gene mutation are more likely to have miscarriages and birth defects during pregnancy.

Effects of MTHFR Gene in Pregnancy:

The MTHFR gene is involved in folic acid metabolism in the body.Elevated levels of homocysteine can lead to pregnancy complications. Hyperhomocysteinemia is frequently seen in people who test positive for the MTH FR mutation.

While women can get pregnant with MTHFR gene mutation, they may have increased risk of complications in pregnancy and baby having birth defects such as:

  1. Spina Bifida:

This is a condition in which bones of spine do not completely close around the spinal cord. It may creating nerve damage.

  • Anencephaly:

Another type of neural tube defect. In this disorder, part of brain or skull is missing or deformed.

Even MTHFR mutation brings higher risk of birth defects. Pregnant women are frequently advised against taking the test.Taking folic acid as a supplementary can reduce the risk for neural tube defects. So mostly, pregnant women are encouraged to take folic acid.

Treatment:

If you have an MTHFR gene mutation or other genetic SNP (single nucleotide polymorphism) variants, a genetic test can tell you. This may be done with any of our Parsley Health doctors, and insurance typically covers it.Other tests include homocysteine levels, hormone level testing and microbiome labs.

A positive MTHFR test result is in no way a negative thing, it is relatively easy to support and will enable us to create a comprehensive program. Patients who have tested positive for the gene mutation should concentrate on consuming as many nutrients as possible through their diet.

Affected infants have a considerably better developmental result if MTHFR deficiency is discovered early and betaine therapy is begun immediately away.Supplements including betaine, folinic acid, vitamins B6 and B12, methionine, L-methylfolate and methyltetrahydrofolate are used to treat the condition.

It may include some natural treatments for MTHFR mutation symptoms:

  • Consume more folate and B12.
  • Support detoxification.
  • Minimize intake of alcohol.
  • Manage your stress.
  • Check your supplements.

References:

  1. Merck Manual Consumer Version [Internet]. Kenilworth (NJ): Merck & Co. Inc.; c2018. Homocystinuria; [cited 2018 Aug 18]; [about 2 screens]. Available from: https://www.merckmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/homocystinuria
  2. ByROBIN BERZIN, MD

Doctor

A positive MTHFR test result is in no way a negative thing, it is relatively easy to support and will enable us to create a comprehensive program. Patients who have tested positive for the gene mutation should concentrate on consuming as many nutrients as possible through their diet.Affected infants have a considerably better developmental result if MTHFR deficiency is discovered early and betaine therapy is begun immediately away.Supplements including betaine, folinic acid, vitamins B6 and B12, methionine, L-methylfolate and methyltetrahydrofolate are used to treat the condition.

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