These conditions are associated with MTHFR genetic mutations in research: Several can be considered a genetic disorder since treating the mutation will resolve the illness. There continues to be correlations of health problems with MTHFR genetic mutations that are not mentioned here.
|Blood clot||Breast Cancer|
|Chronic Fatigue Syndrome||Colorectal Cancer|
|Connective Tissue Disease||Diabetes|
|Epstein Barr Virus||Fibromyalgia|
|Gluten intolerence||Heart attack|
|Heart Murmurs||Heavy metal toxicity|
|Hemolytic anemia||High homocysteine|
|Infertility in both men and women||Insulin resistant diabetes|
|Multiple Chemical Sensitivity||Multiple Sclerosis|
|Myalgic encephalomyelitis||Neural tube defects|
|Neuralgia||Non Hodgkin Lymphoma|
|Post eclampsia||Pre eclampsia|
|Pulmonary Embolism||Retinal Vascular Occlusive Disease|
|Tongue Tie||Vaccine Injury|
What are MTHFR genetic mutations?
Explanations for MTHFR genetic mutations can get very complex so let’s try to keep it simple.
The –ase tells us that it is an enzyme. This enzyme is at the center of the activity of so much of your biochemistry, from turning homocysteine into methionine, making the most important antioxidant in your body, glutathione and converting neurotransmitters like dopamine that will affect your mood. The enzyme also makes the active form of folate, called methylfolate. The active form of folate is able to get around the body better and is the only form that is absorbed in the gut properly and can adequately be used in the brain. As you can see, being able to make methyl-folate is very important for nervous system function, growing babies and much, much more.
The two little sections that code for the enzyme are known as MTHFR C677T and MTHFR A1298C. If we remember back to biology class, there are two letters that determine outcome of a particular trait in the punett square. Capital letters generally indicate the wild type or normal variant of a gene. Little letters indicate a mutation. Two of the same letters indication homozygous and one of each indicates heterozygous.
- AA Normal
- Aa Heterozygous
- aa Homozygous
The MTHFR genetic mutations section of the chromosome in a gene test with normal variants of amino acids should look like this:
It is possible to have 1 or 2 gene mutations between these 4 amino acids. We will use DNA below. Some tests done by saliva use RNA so the amino acids are different.
One genetic mutations or Heterozygous MTHFR:
677: CT 1298: AA This is heterozygous 677.
(One cytosine amino acid has been changed to tyrosine and reduces the ability to make the enzyme by 40%.)
677: CC 1298: AC This is heterozygous 1298.
(One adenosine amino acid has been changed out for a cytosine reducing the enzyme being made by 20%.)
Two genetic mutations or Homozygous MTHFR:
677: TT 1298: AA This is homozygous 677.
(Both cytosine amino acids have been changed to tyrosine which means this is only 30% chance or so of making the correct coding for making the enzyme.)
677: CC 1298: CC This is homozygous 1298.
(Both adenosine amino acids have been changed to cytosine which means this is only 60% chance or so of making the correct coding for making the enzyme.)
677: CT 1298: AC This is compound heterozygous.
(One cytosine has been switched and one adenosine has been switched in each gene. There is a reduction in enzyme activities of up to 60%)
What does it mean?
Simply, this genetic mutation decreases the ability for your biochemistry wheels to spin. Throughout our bodies we have ferris wheels that are used to turn one molecule into another. The enzyme is like the worker who loads the ferris wheel. Without adequate enzymes the ferris wheel doesn’t turn or gets clogged up and you can end up with a crowd of people in one section of the ferris wheel or a crowd of metabolites who cannot go the next step. This crowd of metabolites can cause symptoms- a myriad of symptoms that are endless.
MTHFR is at the center of your biochemistry wheels and interact in so many wheels. If you are positive for a MTHFR mutation or polymorphism, it means that your body has less enzyme to help those biochemistry wheels turn and less active folate or methylfolate being made. If you are not able make active folate, it can clog up the gears causing many of the common symptoms of MTHFR.
MTHFR disorders are treatable. I find 80% of patients improve immediately with the right treatment. MTHFR is one of the most satisfying conditions that I treat because patients get so well when their treatment is focused. There are a number of other mutations, such as COMT, CBS, MAO that can complicate treatment. Some patients are so sick that we have to address other health problems before they are able to tolerate treatment.
How is it treated?
Many people believe only homozygous MTHFR needs to be treated. I beg to differ and find that even heterozygous MTHFR will find that their health problems can be resolved by treating MTHFR. Treatment of MTFHR is often very hopeful.
In general, treatment is nutritional. The goal is to work toward lifestyle changes and a maintenance dose of a multi-vitamin with methyl-folate in it and avoidance of synthetic forms of folate. It can take some stepping stones to get to the maintenance dose as we tweak your body’s ability to spin biochemistry wheels and make the gears more efficient. We want to spin them at the right speed, not too slow and not too fast causing detox. Some patients see immediate life changing results while others see results consistently but more slowly especially if things have been going on for a very long time.
Any medications that involve folate pathways are generally contraindicated with a decrease in your enzyme.
Who should be screened?
If there is a history of MTHFR or methylation defects in your family, you should be screened. It is estimated that 80% of the population has this mutation depending on ethnicity, therefore it is wise to screen for it whenever there is chronic disease, infertility, or in pregnancy. Growing a baby involves adequate active folate so screening in pregnancy MTHFR is essential.
There is a very long list of chronic diseases that are linked to MTHFR but in short, I often screen for it in my office if there is some family history of heart disease, cancer, diabetes, any clots, depression and/or addiction. I also screen in more unusual conditions such as sensitivity to caffeine, a feeling of something creeping up such as a panic attack, estrogen dominance such as fibroids and autoimmune conditions. In the first patient visit, we are creating a painting of the person’s well being and if the picture fits MTHFR, a screening is well worth it.
Screening can be done in our office by blood test. There are kits offered online for blood and saliva testing. You can order a home test kit here. I do counsel patients on the best option for them depending on their finances, health goals and concern for genetic testing and data mining of the information.