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What's this MTHFR I keep hearing about?

Our doctors have a special interest in MTHFR, book in to see Dr Peter Baratosy, Dr Reinhard Hemm, Dr Linda Wilson or Dr Greg Schwarz if you want to learn more.

MTHFR is one of the more recent genetic buzzwords. And, I suspect we’ll be seeing a bit more of it as more and more people test positive for variations of the gene. It’s a bit of a minefield to work your way through, especially if you don’t have a science background.

But, with approximately 1 in 2 people having a MTHFR defect, it’s a significant issue. This acronym stands for Methylene-Tetrahydrofolate Reductase.

It is an enzyme that converts the folate you eat into the active form that your body needs to use. The 2 main genes involved in this process are MTHFR C677T and A1298C.

What would make me think I might have a mutation in one of these genes or a problem with my methylation cycle?

  • 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 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 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.

  • 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, Cyclosporine A, metformin, phenytoin, oral contraceptives, antimalarial, antibiotic Trimethoprim, ethanol, Bactrim, sulfasalazine, triamterene.

What is methylation?

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.

Anything upwards of 45-50% of the general population have some kind of mutation on one of the MTHFR genes.

To find out if you have a positive MTHFR mutation book an appointment with

Dr Peter Baratosy MBBS FACNEM with Reception (03) 6224 6717.

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