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What Is The MTHFR Gene and Should You Be Concerned?

The MTHFR gene has turned into a buzzword in some circles. The gene plays a key role in processing folic acid in our bodies. If both copies (the maternal and paternal copies) of the gene are mutated, your body will process about 7 percent of the folic acid you ingest. Folic acid plays a very important role in pregnancies. Folic acid helps prevent birth defects like spina bifida and anencephaly which are neural tube defects. There has also been some research showing that taking folic acid for one year before trying to conceive can reduce your risk of preterm labor.

How prevalent is it and who normally has it?

Different sources give between 30 and even 50 percent of the population having a mutation, but most sites say 40 percent. If there is only one copy of the gene with the mutation, there is nothing too much to worry about.

The most common people to have the mutation are Caucasian. Specifically, if you or your ancestry are from Northern Europe.

What is MTHFR? Do I have the mutation? Should I get tested for it? ✅ MTHFR is a very common genetic mutation affecting more than 50% of the population in certain ethnicities. MTHFR or MethyleneTetraHydroFolate Reductase is an enzyme which converts your natural folate found in high amount in green leafy vegetables or folic acid, its synthetic “equivalent” found in processed food and fortified food into methyl-folate (5MTHFR), the activated form your body can use. Methyl-folate is the primary form of folate in our blood and is an important part of the body’s detoxification process, it also a key player in cell and DNA repair and in the synthesis of SAMe. MTHFR gene mutations can slow down significantly the synthesis of active folate and create blockages especially when trying to convert its synthetic form, Folic Acid. Since our bodies have a hard time converting folic acid to methyl-folate, the un-metabolized (unusable) folic acid sits in our bodies and damages our cells even more. ✅ Do you… ? (15 questions). - Often feel tired ? - Have Frequent Headaches? - Have a family history of heart disease/stroke or diabetes? - Have food sensitivities/food allergies? - Have trouble focusing and poor memory? - Have low mood or mood swings? - Experience frequent colds or flu symptoms? - Have trouble recovering from any illness? - Find difficult to lose weight? - Eat a lot of junk/processed food? - Have irregular bowel movements? - Often feel bloated? - Have skin issues such as eczema or rashes - Have asthma or seasonal allergies - Have chronic joint pain? ✅ If you answer YES to one or more questions, you need to get tested for MTHFR mutation and schedule a consultation with an expert (I offer free 10 minutes consultation to get you started) #drjeanmarc #mthfr_expert #santamonica #health #genomics #epigenetics #genes #mthfr #optimizehealth #crossfit #crossfitgirls

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What effects will it have on my pregnancy?

Since the MTHFR mutation causes problems with metabolizing folic acid, it plays an important role in pregnancy complications.

It can cause premature birth, pre-eclampsia, low birth weight, and neural tube defects like anencephaly and spina bifida. Frequent miscarriages are also a potential sign.

There hasn't been too much found that will prevent, or guarantee prevention of neural tube defects like anencephaly (which is an absence of the skull) but taking large doses of folate – the natural, broken down form of folic acid – has been shown to lower your risks when newly pregnant. It is recommended to take extra Methylfolate three months before conception until the end of the first trimester.

How do I get tested?

You can talk to your OB-GYN and, at times, insurance will pay to get the testing done. If you have a normal history with normal pregnancies and healthy babies, there really is no reason to get tested. Sites like 23andme claim they can provide testing but there was a major lawsuit over inaccurate results. As always, however, with any medical diagnosis, it's best to consult a doctor.

For the most part, according to most genetic research, there is no real need to fear the mutation. If you just have one, like most people, it's advised to take extra folic acid when you're trying to conceive but it won't harm your health. Homocysteine levels vary depending on other factors and the MTHFR should only be blamed if no other factors are applicable.

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