What the MTHFR?

There is one gene  – MTHFR –  that is getting a lot of attention right now, and for very good reason. MTHFR helps to drive some important metabolic pathways and it’s very common in our population. Approximately 5-12% of people are homozygous for the most common gene change in the MTHFR gene, 677C>T, making it an important starting point for healthcare.

The MTHFR gene makes an enzyme (Methylenetetrahydrofolate Reductase) that converts folate into a form that the body can more readily use.  The body uses methyl-folate to drive the methylation pathway, where many important compounds and proteins are made. The methylation pathway is responsible for:

• Producing and repairing DNA and mRNA
• Detoxification
• Neurotransmitter production

There are two main variations of the MTHFR gene: 677C>T and 1298C.  If you have one variant on one chromosome, and a normal copy on the other, you are termed a heterozygote, and will be running on about 70% enzyme activity. This means you’ll be less able to process folate effectively, whether from your diet or in the form of a supplement.

If you have two copies of a variant, you’ll be termed a homozygote and you’ll be down to around 30%.

If you have one copy of 677C>T and one copy of 1298C, then you’re termed a compound heterozygote, and this is associated with a range of health problems.

So when should you think about finding out your MTHFR gene status?

Because the methylation pathway is so intrinsic to health, the number of conditions related to MTHFR gene changes is long and varied.

If you have a family history of any of the conditions below, or are considering a pregnancy, it may be helpful to find out your own gene status. With a Helix Results Report, I’m able to customize a treatment plan that is tailored to work directly with your genetic makeup.

MTHFR gene changes have been associated with:

• Autism
• Mental health problems including depression and anxiety
• Infertility
• Down Syndrome
• Neural tube defects such as spina bifida
• Blood clots
• Irritable Bowel Syndrome
• Chronic Fatigue
• Heart disease
• Hyperhomocysteinemia
• Cancer

How is it treated?

That depends on what we find. While MTHFR is important, I like to look beyond just one gene. You are the product of many genetic interactions, and you may need to support more than one health domain. The good news is that if you know your gene status, you’re well on the way.

So if you’re interested in knowing more about your own genes, book in to speak to our genetic counselor today and you’ll be well on the way to better health.