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MTHFR gene is in charge of Methylenetetrahydrofolate reductase (MTHFR) an enzyme responsible for folic acid metabolism in the body. In this article we’ll look at the function of this enzyme, why it’s important for fertility and the standard treatment for MTHFR mutation.
Genetics can be quite complicated and the terminology confusing so I’ll stick to the layman’s terms to explain what’s going on in the body if you have this mutation.
Polymorphisms (changes) of this gene can result in MTHFR enzyme malfunction and improper use of folic acid by the cells.
Folic acid plays an incredible number of roles in body including formation of red blood cells, DNA transcribing, protein production, cellular energy production and metabolism (Krebs cycle), works closely with B12 and other B vitamins in hundreds of cellular processes and the list does not end here.
As you may be aware folic acid is crucial for fertility, miscarriage prevention, formation of your baby’s organs during the crucial first trimester of your pregnancy, when so called organogenesis – organ formation – takes place. Neural tube defect is just one of the many malformations which can result from inadequate folic acid intake.
However if you have MTHFR gene mutation normal intake of folic acid will not be enough!
It is estimated that approximately 30%-40% of the population have a malfunctioning MTHFR gene. Some have it on both chromosomes and most on just one chromosome. This mutation predisposes you to chronic conditions later in life as result of homocysteine accumulation. Homocysteine is a free radical our body produces as a result of cellular metabolism – the Krebs cycle. It is also one of the most toxic free radical for our body.
Folic acid helps break it down to a water-soluble state which can easily be excreted via faeces and urine. But when you can’t utilize folic acid properly homocysteine accumulates in the cells and predisposes you to cardiovascular conditions, recurrent miscarriages, congenital malformations in the baby if you are pregnant, implantation issues, blood clotting issues, cancer etc…
Treatment for MTHFR Mutation
- First have yourself and your partner tested. If you test positive, read on, if you test negative, stick to recommended dose of 800 micrograms of folic acid per day.
- If you tested positive for MTHFR gene polymorphism you will need follow the treatment for MTHFR mutation: start taking 1-5 mg of folic acid a day. Methylated form is best (5-MTHF). As folic acid works closely with B12 you will need to increase your dose of B12 as well. Most high dose folic acid preparations already are combined with B12. You will need a prescription for such a high dose of folic acid and your doctor who performed the test will be able to write you a script for it.
- To prevent miscarriages make sure to take 1-5mg of folic acid for at least 120 days prior to conception to ensure the batch of eggs you’ll be trying to conceive with has been developing in healthy conditions.
- Depending on your medical and family history you may or may not need to stay on such high does of folic acid for the rest of your life. Your doctor can discuss this with you. And just because this is what is currently being prescribed as a treatment for MTHFR mutation does not mean the treatment will stay the same in 10 years. Always keep researching and looking for the latest advancements in science. Nothing changes more rapidly than the scientific discoveries!
I’m happy to say that I have been able to successfully treat recurrent miscarriages when the underlying cause was MTHFR gene mutation with high doses of folic acid.
Please share your thoughts on treatment for MTHFR mutation with me. Do you have it? Are you taking high doses of folic acid daily? Did it have a positive outcome on your pregnancy? Are you familiar with any other treatments for MTHFR mutation? Would love to hear from you!
Further reading: http://ghr.nlm.nih.gov/gene/MTHFR
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