As promised, I am going to provide a brief outline of the MTHFR gene mutation, and what that means for us. I am not a doctor, nor have any medical training of any sort. The information below is simply my understanding of the condition, based on my own internet research. There are several sites, referenced at the end of this post, that will be able to provide more in-depth information if you’re interested.
Firstly, what does MTHFR stand for? The full title is – methylenetetrahydrofolate reductase. Unless you’re a scientist or in the medical field, you will no doubt find MTHFR easier to remember, write, and say.
The MTHFR gene produces the MTHFR enzyme, which plays a pivotal role in a process called methylation. Methylation, which is the addition of a methyl group (a group of atoms) to another molecule, is responsible for a huge array of processes responsible for keeping your body whole, healthy, and functioning well. Some of the key processes include:
- Making proteins
- Utilising antioxidants
- Assisting the liver to process fats
- Defence against depression and inflammation
- Support for immune system
- Production and breakdown of brain chemicals serotonin, dopamine and melatonin
- Growth, repair and maintenance of cells and tissue
- Elimination of toxins and heavy metals
- Support of adrenal system
- Supply glutathione, a key anti-oxidant
- Support our energy cycle
In a nutshell, methylation is a switch that turns genes, enzymes and neurotransmitters on and off. This can mean turning on or off:
- Tissue repair
- The stress response
- The aging process
- Production of anti-oxidants and amino acids
When someone has a mutated MTHFR gene, the enzyme it produces is defective, and does not function correctly. This can lead to retention of heavy metals in the system, and high levels of homocysteine. These build ups can each lead to multiple, and severe, consequences such as:
- Increased risk of heart disease and thrombosis
- Increased risk of dementia
- Build up of stress and toxins
- Increased risk of arteriosclerosis
- Fatty liver degenerative disease
- Increased inflammation and free radical damage
- Reduction in the production of SAM-e, which can lead to depression
- Increased risk of cancer
- Irritable bowel syndrome
- Chemical sensitivities
Other conditions that have been linked to the MTHFR gene mutation include:
- Type 1 diabetes
- Multiple sclerosis
- Heart murmers
There are a number of forms of the gene mutation, with research only fairly new in this field. Currently, there are two main positions that are being researched and tested for – C667T and A1298C. These codes relate to the actual segments of the gene where the mutations can be found. The terms Homozygous and Heterozygous relate to whether you have received a mutation from one or both parents.
Heterozygous means you have one copy of either the 677 mutation, or the 1298 mutation, plus a normal one from the other parent. This generally relates to a 40% loss of function of the MTHFR enzyme. This is the diagnosis that we are facing for Mum.
So what does this all mean?
Genetic research is still a relatively new field, and therefore treatment is also not fully developed. Most treatment protocols include the supplementation of the amino acids and anti-oxidants being limited by the mutation, along with dietary changes. The removal of gluten from the diet, along with most other cereal grains, is a widely used technique. The GenoType diet is also based on the methylation process, hence why it is also used as a foundation of treatment.
All in all, this will be an ongoing journey and education over the foreseeable future, as new research continues, and treatments are developed. Come and join the ride if you dare!