FAQs

• You might be suffering from any of the conditions on the Conditions page
• You might have long standing fatigue, and just don’t feel good even though you have had many tests and many doctors/specialists/practitioners have said that there is nothing wrong with you
• You may have female members of your family that have had a miscarriage or multiple miscarriages, or who have given birth to a child with Neural Tube Defects, cleft lip/palate or Down syndrome
• You may have oestrogen dominant conditions like: fibrocystic breasts, fibrocystic ovaries, heavy periods, fibroids, endometriosis, terrible PMS
• You may have family members with issues with their cardiovascular system like high blood pressure, high cholesterol, stroke, heart attack, deep vein thrombosis
• You may have a family history of depression, anxiety, bipolar
• You may have allergies, asthma, hives, migraines
• You or your family members may have been diagnosed with ADD or ADHD
• You may have had learning difficulties at school / you may find it hard to concentrate
• You may have issues with inflammation
• You may have elevated liver enzymes in blood testing
• You may have elevated red cell folate in blood testing
• You may have chronic constipation or diarrhoea
• You may have low B12 levels
• You may suffer dizziness
• You may have elevated homocysteine levels
• You may be on drugs that deplete your B12 and/or folate levels like antacids, cholestyramine, methotrexate, nitrous oxide, high dose niacin, theophylline, Cyclosporin A, metformin, phenytoin, oral contraceptives, antimalarials, antibiotic Trimethoprim, ethanol, Bactrim, sulfasalazine, triamterene.

Methylation is the process by which your body transfers one set of atoms into a series of amino acids, proteins, enzymes and DNA in each and every cell and tissue in your body. The process of methylation is involved with activities such as:

• Detoxification
• Repairing and building DNA and RNA
• Processing hormones
• Building immune cells
• Producing energy
• Repairing cell membranes
• Turning the stress response on and off
• Supporting neurotransmitters – the brain’s communication chemicals
• Supporting fat metabolism

Methyl groups in your body are the ‘on-off’ switches of the cells activities. As your cells are then responsible for all tissues and organs in the body, it is vital they are healthy and working as optimally as possible.

Upwards of 45-50% of the general population have some kind of mutation of the MTHFR gene.

There are 3 main ways to test and discover your MTHFR gene status:

1. Order and complete the MTHFR Gene Test via our website.
   For more information and to order your kit: US/International residents   Australian residents
2. Via your doctor/ health practitioner & a pathology lab. In this method, you receive a referral for the MTHFR gene test from your doctor or health practitioner (ie. naturopath), and take this form to your closest pathology collection center. The pathologist will take a blood sample for testing, and your results will be sent to your practitioner to share with you. Remember, it is imperative the pathology lab tests for both variants of the MTHFR gene: A1298C and C677T, as receiving results for one mutation will only possibly present 50% of the picture. Note for Australian Residents: If you are completing this test through your doctor and you have a first degree biological family member who is positive for this mutation and/or you have a history of Deep Vein Thrombosis (DVT) or pulmonary embolism, then you may be able to claim the test through Medicare. Please discuss this with your doctor. All tests completed through naturopaths/ nutritionists etc will not be covered by Medicare.
3. AncestryDNA Genetic Testing – This is a USA-based genetic testing company that extracts your DNA from a small saliva sample. Their lab looks at more than 700,000 different “markers” in your DNA including MTHFR gene variations C677T and A1298C. This presents a more in-depth option for testing, and will supply you with a great deal of information about your methylation-related genes and overall genetic health. For this reason, this form of testing can be well suited to anyone who has suffered with a chronic health condition, has not seen improvements with classic medical or natural treatment or has issues with falling pregnant/ infertility. AncestryDNA Test kits can be ordered here.

A positive result means something different for each individual. It is very important to remember that just because you have a mutation does not mean you are expressing it and will have health issues. There are many factors that influence whether you express a gene mutation ranging from stress, to your diet and the environment around you.

If you have chronic disease or you don’t feel well, then it’s likely that various factors have caused an expression of your MTHFR gene mutation – it is then important for you to seek assistance in understanding your MTHFR mutation and address it.

• Homozygous: Means you have a copy of the gene mutation from both parents
• Heterozygous: Means you have one copy of the gene mutation from one parent plus a normal one from the other parent
• Compound heterozygous: Means you have one copy of the gene mutation and one normal copy for both C677T and A1298C.

The C677T and A1298C mutations cause a down-regulation of the enzyme mentioned above. In the case of the 2 gene mutations this then approximately equates to the following:

• MTHFR C677T heterozygous = 30-40% loss of function
• MTHFR C677T homozygous = 60-70% loss of function
• MTHFR A1298C heterozygous = some % loss of function – Research is NOT clear
• MTHFR A1298C homozygous = 40% loss of function
• Compound heterozygous = 40-50% loss of function

Wrong!

In addition to the MTHFR gene, there are a multitude of genes involved in the methylation pathway. Yes, MTHFR is a vitally important gene to start with, but many people can’t cope with methylfolate initially as the body may have issues in other areas and pathways, ie. inflammation, gut health, detoxification or hormonal balance. Introducing methylfolate to the body whilst these issues are still occurring can lead to side effects and/or make your symptoms worse.

It is therefore important to see a professional that knows and understands how to address methylation issues. Some people have no problem with methylfolate, but others have terrible side effects.

If you do begin methylfolate supplementation, below is a list of its related side effects to monitor for:

• irritability
• insomnia
• sore muscles
• achy joints
• acne
• rash
• severe anxiety
• palpitations
• nausea
• headaches
• migraines
• depression
• suicidal thoughts

MTHFR and Pregnancy

Any period of rapid growth increases the need for healthy DNA production. Increased demand for the production of healthy DNA is huge during pregnancy due to the intense growth of the fetus.

This DNA production is largely governed by adequate folate levels and therefore, the MTHFR gene.

Impaired methylation is linked with many disease states (e.g. Neural tube defects, Cardiovascular disease and Cancers)

It is thought these diseases result from:

1. Impaired DNA synthesis and repair
2. Changes in methylation that negatively change gene expression
3. If there is a mutated MTHFR gene, the availability of active methyl folate is decreased, then DNA production and gene expression cannot happen as abundantly as required for the growing baby
4. This is when developmental disorders occur in offspring, such as Neural tube defects, Congenital heart disease, Down syndrome and Cleft lip/palate

Preconception and pregnancy have many layers of complexity and consideration, so the information we are able to provide here is limited. For more information on how MTHFR can affect pregnancy, please read the list of blog posts below and consider booking an appointment with one of our team of experienced practitioners using our online booking portal.