What is the MTHFR gene?

A gene has information the body needs in order for certain processes to take place.

The MTHFR gene is in charge of an enzyme (methylenetetrahydrofolate reductase) that converts folic acid (aka Vitamin B9) to the active form, 5-MTHF, so the body can utilize it properly.  This is a vital conversion because the body has no use for folic acid, but when turned into 5-MTHF, can give us the ability to:

  • produce essential neurotransmitters for the brain
  • methylate properly to prevent elevated homocysteine
  • synthesize DNA & RNA (most important for pregnancy and fetal health)
  • regulate genes
  • detoxify environmental and heavy metal toxins (lead, mercury, copper, BPA)
  • produce red blood cells

Having a MTHFR gene mutation may indicate you have a reduced ability to convert folic acid to its functioning form and lead to a varying number of health issues.

How many people have this gene mutation?

This is a very important topic because more than 50% of the population has a mutation in at least one MTHFR gene! Fifty percent!

The most common variant is known as MTHFR C677T.  Having the homozygous C677T variant leads you a 70% reduction in your ability to convert folic acid into 5-MTHFR.  Having only one C677T allele means you are heterozygous (one parent has the mutation).  This can reduce MTHFR enzyme activity by 40%.

Who should get tested?

Knowing if you have a MTHFR gene mutation and supplementing with the correct form may help prevent and/or treat the following:

  • Sluggish thyroid
  • Estrogen dominance
  • PCOS
  • Frequent miscarriages/Infertility
  • Birth defects such as down syndrome, neural tube defect, autism
  • Parkinson disease
  • Alzheimer disease
  • Migraine
  • Psychiatric disorders such as addiction, anxiety, depression, schizophrenia
  • Cancers
  • Elevated homocysteine level
  • Coronary heart disease
  • Stroke
  • Hypertension
  • Hyperlipidemia

My recommendations:

  1. Supplementing with the proper form of vitamin B9 (folic acid) and vitamin B12 to support the methylation process.  Check the back of your vitamin bottle at home to see if you are getting 5-MTHF or folic acid.  If you are concerned about the above conditions, then switch to a vitamin with the active form.
  2. If you are planning on getting pregnant, please check your prenatal vitamin and see if it has 5-MTHF.  If it doesn’t, then I would caution on the safe side and supplement with the active form even if you do not know if you have the gene mutation.
  3. Eat your greens!  The following foods already have methylfolate: sprouted legumes (lentils, chickpeas, white beans), spinach, romaine lettuce, kale, cabbage, broccoli, sweet peppers, berries, oranges, grapefruit, and fermented foods (kefir, sauerkraut).  Increasing intake of these in your diet can ensure you are getting the active form.

How can you find out if you have this gene?

  • ALCAT Food Sensitivity Test
  • GeneSight
  • DDI Methylation Profile

Luckily, all of the above tests are provided at CentreSpring MD! Come see us and schedule one of these tests to see if you have this gene mutation. As always, we will guide you and help you make the best, most informed decisions for your health.

Rosi PatelRosi Patel is a certified Family Nurse Practitioner who joined CentreSpring MD in early 2017 and is excited to be part of a group of like-minded professionals. Prior to joining the CentreSpring family, she spent 8 years as an emergency room nurse and other various acute and ambulatory settings.

Email appointments@centrespringmd.com to schedule a visit with Rosi Patel.

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Categories: General