MTHFR – A Brief Look

4As 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
  • Inflammation
  • 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
  • Anemia
  • 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
  • Miscarriages
  • Migraines
  • Chemical sensitivities

Other conditions that have been linked to the MTHFR gene mutation include:

  • Autism
  • Schizophrenia
  • Fibromyalgia
  • Parkinson’s
  • Pre-eclampsia
  • Type 1 diabetes
  • Multiple sclerosis
  • Heart murmers
  • Asthma

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.

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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!

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Resources

http://www.stopthethyroidmadness.com/mthfr/

http://www.mthfrsupport.com.au/

http://ghr.nlm.nih.gov/gene/MTHFR

http://mthfr.net/

http://www.proactivwellnesscenters.com/Hormone-Replacement/mthfr-implications-and-treatment/

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The Rawleotype Diet – Say What??

imageIf you’ve been following my recent posts, you’ll be aware that medical issues and pending diagnoses have turned our dietary lives on our heads.

Well, the results are in.  Mum is not coeliac – phew!  However, she still must avoid gluten and processed sugar.  That isn’t so painful, as the Raw Food diet already complies with this.  However, her naturopath isn’t a huge fan of Raw, and insists on cooked food still being the staple.  Her dietary advice comes from a few different sources, based on scientific test results, so I’m willing to work with it.  Raw food will still be incorporated into Mum’s diet though, as there are too many benefits not to.

So, what are these tests and results?

Mum is Heterozygous for the MTHFR Gene Mutation C677T. 

I’m sure that makes as much sense to you as it did to me when I first heard it.  I will go into the exact details of the mutation in a separate post.  For now, I want to look at how our naturopath has interpreted this result and developed a nutrition plan.

1. The GenoType Diet

Dr Peter D’Adamo is the author of the Blood Type Diet, and the GenoType Diet.  He has undertaken many years of scientific research into the human body, and how foods interact with different people.  The question behind this research is essentially ‘why don’t all diets work for all people?’  I’m sure we’ve all seen examples of the inconsistency in results of different people undertaking the same diet.  Some people drop the kilos, have abundant energy and feel 10 years younger.  Other people following the exact same regime feel sluggish, bloated and the weight simply won’t budge.

Dr D’Adamo has discovered that our genetic makeup has a huge impact on how our bodies utilise and react to different foods.  I’ve read his book, and I can understand his theory.  We haven’t been utilising this regime for long enough to determine if it will have real effects yet.

There are 6 GenoTypes, and these are determined by such things as your physical measurements, body shape, teeth shape, fingerprint patterns and blood type.  Mum has been identified as a ‘Gatherer’, and reading the definition of this type, I can see how she fits.

Dietary wise, Gatherers are put onto a high-protein, low GI diet, with foods designed to aid in natural detoxification and to boost metabolism. There is a list of ‘Good’ and ‘Bad’ foods, essentially those that your body can utilise well and provide the most benefits, and those that will slow down your metabolism and cause problems.  The list I posted recently is the Gatherer’s ‘bad’ list.  These are therefore foods Mum should avoid whenever possible.

2. The Paleo Diet

The Paleo diet has become very popular over the last few years, particularly amongst the fitness community.  The philosophy behind it is going back to our roots, and how our ancestors ate before the development of agriculture ie the Hunter-Gatherer’s.  Food was freshly picked, foraged and killed.

In modern-day translation, this means grass-fed meat, no processed food, no cereals or grains, limited nuts and seeds, and lots of fresh fruit and vegetables.  Other than the meat, this diet resonates with me, as it is natural, whole food, with limited human intervention.  I do struggle with the amount of meat included in the paleo diet, especially the use of organ meat.  I am still doing a lot of reading and research into Paleo, and think I will be taking some of the ideas on board, whilst leaving some alone.

3. The Raw Diet

You of course are aware of my belief in the Raw Food Diet.  Fresh, natural food.  Lots of fruit and vegetables, good fats and proteins from nuts, seeds and coconut, and retaining the maximum nutritional benefit by not heating the food above 46 degrees C.   I am determined to still use Raw methodology as much as possible, whilst complying with the specified foods on Mum’s approved lists.

Hence, I have labelled our new dietary regime the Rawleotype Diet – a balanced use of the benefits from each of these diet styles.  The results could be interesting!