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MTHFR – Methylenetetrahydrofolate Reductase – Part 2

MTHFR How many types are there?
dna-strand-3dThere are two different genes identified for this mutation. It is possible to be ‘heterozygous’,’compound heterozygous’, or ‘homozygous’. The MTHFR gene mutation has varying degrees of possible implications for the five different possible combinations. Heterozygous means one copy from one parent, (one of either C677T or A1298C) homozygous means two copies one from each parent. (two of either C677T or A1298C). Compound heterozygous means there is one copy of C677T and one copy of A1298C. (one from each parent).

  1. C677T & C677T (Two C Copies – C677T Homozygous)
  2. C677T & A1298C (One Copy of Each The C & A – Compound Heterozygous)
  3. C677T (One C Copy – C677T Heterozygous)
  4. A1298C & A1298C (Two A Copies – A1298C Homozygous)
  5. A1298C (One A Copy – A1298C Heterozygous)

How common is MTHFR?
The MTHFR mutation is common in the general population. Approximately 44% of the population is heterozygous and another approximate 12% are homozygous for the MTHFR mutation. This means about 50% of people have this gene mutation.
Compound heterozygous and homozygous MTHFR have the highest incidences of being linked to implantation failure, late term miscarriages, specific birth defects and overall vascular health. Both MTHFR (Methylenetetrahydrofolate reductase) gene polymorphisms C667T and A1298C are associated with miscarriage risk. Whichever type of MTHFR is present, it should not be discounted as the cause of fertility issues, particularly if there is a personal or family history of any such incidences of ill health.

What else is involved with this condition?
MTHFR is a major thrombophilia factor and is usually tested along with other mutations such as Factor V Leiden (heterozygous or homozygous) and Prothrombin Factor II (heterozygous). Referral to the haematology Department of the closest hospital is usual practice and suggestions of Clexane (blood thinner) during pregnancy and post birth for 6 weeks is often suggested for those homozygous C677T.

Lets look at the variants in more detail:

  • C677T

This variant has been more studied than the A1298C variant and research is constantly suggesting more and more possible effects within people.
Those with C677T are more likely to have cardiovascular issues, deep venous thrombosis, and stroke. Homocysteine more likely to be elevated, liver detoxification is reduced. There is usually low methlyfolate levels and both types of absorbable folate are recommended (5 methlyfolate and folinic acid)
If you are heterozygous C677T there is approximately a 40% loss in function of folic acid and if you are Homozygous C677T there is a 70% loss of function.

  • A1298C

This variant has been less studied, but indicators suggest those with this mutation are more likely to experience neurological, attention issues and difficulty with concentration. Neurotransmitters in the brain may be affected leading to an increase chance of schizophrenia and migraines. People with this variant also tend to feel increased pain, an increase likelihood of fibromyalgia, Chronic Fatigue, dementia, Parkinson’s disease.
There is increased likelihood of bacterial over growths in the gut. Altered gut function, increased food sensitivities.
The person may have normal methlyfolate levels and no loss of function, or there may be heavy metals or hormonal imbalance present. Folinic acid on its own may be OK in this situation, (especially if person is A1298C heterozygous).

In the next article we will study folate in detail, its many disguises and types along with the pathway it takes within the body to be absorbed into your cells.

If you have the reduced MTHFR activity and you would like help with conception, then contact me here at No Baby No Pay.  We can help.


Are you looking for a natural way to improve your chances of having a baby? You can book here for an appointment to see us.

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