Hi All

So being a health research nerd, I have had my genes tested.  What a fascinating and eye-opening experience.  I have subsequently addressed genes with many of my health clients, especially when there is a history of Alzheimer’s, heart disease or cancer.  One of the most impactful gene SNPs is the MTHFR gene.

Some of the symptoms associated with the MTHFR gene SNP

Addictive Tendencies
· Allergic skin disorders (Eczema, Hives,
Contact Dermatitis)
· Allergies, seasonal, airborne
· Anxiety
· Asthma
· Auto immune disorders
· Chronic Fatigue
· Depression
· Poor Detoxification
· Frequent Headaches
· ADD, ADHD
· Insomnia
· Joint stiffness, pain, swelling
· Muscle pains
· Histamine sensitivity
· Obesity
· Obsessive Compulsive Disorder
· General, nonspecific pain
· Perspiration, excessive
· Phobias
· Pruritis, itching

All these may be symptoms of a sub optimal systemic process where there is under-methylation. Methyl groups are small molecules that support important processes in the body, for example, detoxification. One of the enzymes that is involved in the methylation process is MTHFR. When you inherit a SNP (single nucleotide polymorphism) in the enzyme methylenetetrahydrofolate reductase, (MTHFR), then this enzyme, supporting methylation, is less than efficient and this impacts on many processes important for health and balanced mood.

In addition to problems with methylation, there are other associated conditions that manifest as health challenges.

Here is a simplified summary of some of the health conditions associated with this particular gene SNP.

The MTHFR gene (methylenetetrahydrofolate reductase gene) is one of the most well researched gene SNPS. Take a look here to see what gene SNPs are, and how they may affect our health and longevity.

MTHFR is involved in the conversion of folate (vitamin B9) into its active form, which is essential for various biochemical processes in the body. I just want to mention here that folate is NOT folic acid.  Most forms of folic acid that are added to vitamins are in the synthetic form and if you possess the MTHFR gene SNP then your body will be unable to effectively use this form.

Mutations or variations in the MTHFR gene can affect this conversion process, potentially leading to certain health conditions or influencing the risk of certain side effects. However, it’s important to note that not everyone with MTHFR gene mutations will experience side effects, and the impact can vary from person to person. The body is like a web, with many variables contributing to the manifestation of disease, and SNPs are just one piece of the puzzle.

Here are some common conditions and symptoms that may be associated with MTHFR gene mutations:  If you have any of these conditions and they seem resistant to treatment, or are very severe, then testing your genes may be an option.  Click here for more information on gene SNPs and associated health conditions.

1. Elevated homocysteine levels: MTHFR gene mutations can interfere with the conversion of homocysteine to methionine, resulting in higher levels of homocysteine in the blood. Elevated homocysteine is associated with an increased risk of cardiovascular disease and blood clotting disorders. When you go for a medical, or to your doctor for other blood tests, ask the doctor to test homocysteine.  An optimal result is 7. Don’t be fooled into thinking all is well if your tests come back with a homocysteine result higher than 10.
2. Cardiovascular disease: High homocysteine levels due to MTHFR gene mutations may contribute to the development of cardiovascular diseases such as coronary artery disease, heart attack, and stroke. This is one of the puzzle pieces that should be routinely tested by your cardiologist.  Sadly, because many specialists do not know how to go about lowering homocysteine (believe me, it can be done), they tend to not bother to test.  Ask for it.
3. Neural tube defects: Certain MTHFR gene mutations have been linked to an increased risk of neural tube defects in babies, such as spina bifida and anencephaly, when the mother has insufficient folate intake during pregnancy. Pregnancy vitamins generally contain a synthetic form.  The correct form is called 5MTF.
4. Pregnancy complications: MTHFR gene mutations, especially the C677T mutation, have been associated with an increased risk of miscarriages, preeclampsia, placental abruption, and other pregnancy complications. If you have a history of miscarriage then a gene profile is very helpful to see if you carry this gene SNP.
5. Folate deficiency: Individuals with MTHFR gene mutations may have reduced ability to convert folic acid or folate into its active form. This can result in lower levels of active folate in the body, potentially leading to folate deficiency, which can cause symptoms like fatigue, weakness, and megaloblastic anemia.
6. Mental health issues: Some studies suggest that MTHFR gene mutations, particularly the C677T mutation, may be associated with a higher risk of mental health conditions such as depression, anxiety, bipolar disorder, and schizophrenia. However, the evidence is still inconclusive. Unresolved or debilitating depression should be investigated with MTHFR in mind.
7. Migraines: MTHFR gene mutations, particularly the C677T variant, have been linked to an increased susceptibility to migraines and their severity.
8. Autism spectrum disorder (ASD): Some studies have found an association between MTHFR gene mutations and an increased risk of autism spectrum disorders. However, further research is needed to establish a definitive link.
9. Chronic fatigue syndrome: MTHFR gene mutations have been suggested to play a role in chronic fatigue syndrome, although more research is needed to understand the relationship between the two.
10. Cancer risk: Some research suggests that MTHFR gene mutations, particularly the C677T variant, may be associated with a higher risk of certain cancers, including colorectal, breast, and gastric cancer. However, the evidence is still limited and conflicting.  While there are many factors that feed into the risk of cancer, addressing each one if you have a family history means that each factor can be ameliorated to reduce your risk.

It’s important to note that the impact of MTHFR gene mutations on health is complex and can vary among individuals. If you have concerns about MTHFR gene mutations or potential side effects, it is best to consult with a healthcare professional or a genetic counselor who can provide personalized information and guidance based on your specific situation. Click here to find out about testing your genes.

Or contact Jules on WhatsApp 084 770 5943 for more information.