Happy Friday!

I, like you, read this as mother fu@ker but it is pronounced ‘M-T-H-F-R.’

The MTHFR gene mutation has been getting some recent press since actress Courtney Cox announced that she has it. In short, this gene mutation dictates how the body methylates. While I read that nearly 50% of people have some form of the MTHFR gene mutation, it is not widely discussed in the medical field.

My dearest childhood friend has the gene along with Lyme Disease. She suffers daily and her fight is not over yet. Unfortunately, her doctors were not very familiar with this gene mutation when she first learned she had it. Even more unfortunate is what little is known about Lyme. She continually self-educates by scouring websites, blogs and forums and is therefore able to have more educated conversations with her doctors. Thankfully she has some wonderful doctors in her corner. Always do your own research and be an active participant in the discussion about your medical care. You know your body best. It is not like the old days when we had the same doctor our whole lives to treat us and all of our family members. R.I.P. Dr. Blake. He was mine.

What is the MTHFR gene?

From the National Center for Advancing Translational Sciences and The Genetic and Rare Diseases Information Center (GARD), the MTHFR gene mutation is a genetic change that affects an enzyme involved in breaking down the amino acid homocysteine. Essentially, this mutation inhibits the body’s ability to methylate (convert folic acid from the food we eat to the enzyme we need, L-5-Methyltetrahydrofolate or L-MTHF for short).

Still confused? Me too. Click here for an informative video from Drpaulmd.com. I have watched it three times already and feel a little less lost each time.

Who should get tested for the MTHFR gene mutation?

There are MANY many symptoms related to the MTHFR gene mutation, which is probably why it is so hard to diagnose. Just about every known ailment is listed as a symptom or common condition from frequent miscarriages to depression to cracked lips.

Thankfully, Courtney Cox’s doctor suggested that she get tested due to her several miscarriages, her father’s passing from a rare form of cancer and a history of depression in her family. It turned out that she has the worst kind of the MTHFR gene mutation, which likely means she got the gene from both her mother and her father.

The major three symptom areas include central nervous system disorders, cardiovascular problems, and environmental poisoning. For more detailed symptom area information, click here to read an article by healthnutnews.com.

From mthfrgenehealth.com, here are some medical indicators signaling that you may have the gene mutation:

• Do you have elevated red cell folate levels?
• Is your serum B12 <500
• Do you have chronic low white blood cell count (WCC), neutrophilis, lymphocytes?
• Do you have increased mean corpuscular volume (MCV) >90 (High red blood cell count)?
• Do you have increased red blood cell distribution width (RDW) >13%?
• Do you have low haemoglobin <140g/L for males or <135g/L for females?
• Do you have elevated homocysteine levels?  Levels over 7-8 umol are considered high?
• Do you have vitamin B12 deficiency symptoms despite a normal serum B12 count such as poor hair condition, eczema or dermatitis, mouth oversensitive to heat or cold, irritability, anxiety, tension, lack of energy, constipation, tender or sore muscles, pale skin.  Homocysteine levels over 12 indicate B12 deficiency.
• Do you have increased creatinine kinase?

Since so many of my friends and clients suffer from migraines, I do want to point out that there is a connection between migraines, especially migraines with aura, and the MTHFR gene mutation. Read What we know about the MTHFR gene mutation and migraines  from migraineagain.com for more information and health tips.

What to do about it

Fortunately, there is an easy and relatively inexpensive test (about $150) to determine whether or not you have the gene mutation. Check out 23andme for the mail-in test. You will receive raw data which will need to be interpreted later. Your doctor can also do a blood test.

If any of this resonates with you, you have persistent issues with your health and your doctors can’t seem to figure out the cause, consider investing in the test and ruling out a MTHFR gene mutation. There is hope if you test positive. For starters, vitamins B2, B3, B6, methyl B12 and methyl folate would likely be added into your daily routine. My friend also uses a glutathione spray which is a detoxifier. One problem with MTHFR is the liver does not detox properly causing toxins to build up in the body, which in turn can cause symptoms to flare.  Yet another reason to live a healthy, balanced lifestyle including a diet rich in antioxidant fruits and veggies.

Always consult your health care practitioner before taking any action. A diagnosis can be overwhelming and there is an infinite amount of advice out there but with time, you will be able to connect the dots.

Consider working with a health coach to improve your diet and lifestyle. Have you heard the phrase, ‘everything gives you cancer and nothing gives you cancer’? I used to wonder what that meant. If our bodies are in balance (nourished, hydrated and muscles firing on a regular basis) and our minds are grounded (stress-free with a positive attitude and happily working our life’s purpose) then dis-ease  in the form of cancer, heart disease, diabetes, etc. etc. will have a very hard time touching us.

Be aware that stress inhibits the “methylation” – the transfer of methyl from 5MTHF to other substances. So if you have stress in your life (who doesn’t?!) AND the MTHFR gene mutation, you should be especially mindful to take the best care of yourself.

For more information and health tips on the MTHFR gene mutation, visit:

• mthfrgenehealth.com
• methyl-life.com
• rarediseases.info.nih.gov/diseases/10953/mthfr-gene-mutation
• mthfr.net

Feel free to contact me if you have any questions or comments. I am conducting ongoing research on MTHFR for a client and suspect that more clients in the future will have the gene as well. Knowledge is power!

Enjoy your weekend.

Susie

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