MTHFR is methylenetetrahydrofolate reductase. Some of us have a gene SNP (singular neucleotide polymorphism) or gene SNPs that are not working correctly. People with MTHFR have trouble converting folic acid into the bioavailable form of folate. This can cause many health problems which a few I have listed on the home page. MTHFR plays a role in the production of glutathione along with many other genes that we are finding out about.
In order to get the MTHFR gene to start working again, other enzymes should be addressed. I found this out the hard way. When I found out about MTHFR, I was given the correct forms of active b vitamins along with a few other supplements and I felt good at first and then became very ill again. I can tell you about the panic attacks, days of not sleeping, excessive unhealthy energy, the feelings of my bones and muscles being crushed and horrible onset of adult acne. These were some of the signs I had when I was put on the active b vitamins and sulfur based supplements without looking at other critical enzymes that play a role in the production of glutathione.
In my experience of learning the hard way, gut health should always be taken care of before methylation will work at it’s full potential. PH balance, parasites, bacteria and mold are just a few things that will disrupt gut absorption. Also adding a healthy organic diet, avoiding foods fortified with synthetic b vitamins which cannot be converted well if at all when there are MTHFR gene mutations involved and going gluten free and casein free.
I was put on a generic “one size fits all” protocol for MTHFR. Most doctors that are prescribing protocols for MTHFR do not look into other genes that work along with MTHFR and some serious consequences can occur.
The CBS GENE:
Cystathionine beta synthase gene mutations can cause serious problems when one is put on a “one size fits all” protocol for MTHFR. I was put on 70mg of pyridoxal 5′-phosphate (vitamin B 6), MSM, NAC, milk thistle, glutathione and whey protein. All which are sulfur based and can cause serious problems if CBS is not supported and working efficiently. I was fine for a few weeks and then the pain, anxiety panic and illness kicked back in. I started reading some of Dr. Amy Yasko’s work and realized that I must have other genetic defects besides MTHFR on this methylation pathway. CBS was just one of the defects. I could not afford her genetic testing so I tried to go to a geneticist to be tested for CBS and was told that there was no need. I finally saved enough money to order 23andme. From that test I found that I was heterozygous for the C699T mutation and homozygous for the A360A mutation. Now I understood why I reacted negatively to all these sulfur based foods and supplementation. The supplements that create glutathione were getting jammed. I like to call this methyl trapping. After much research, I put myself on a low sulfur diet for 3 months and started supporting the CBS gene with ammonia free molybdenum, carnitine and yucca root. Since then, I can now handle sulfur foods and other supplementation very sparingly. When sulfur is not breaking down, ammonia builds up so I use the molybdenum to support sulfur and the carnitine and yucca root for ammonia support. Some people do find butyrate works as well. Twice a week I am using a magnesium citrate/calcium supplement and charcoal to mop up the ammonia in my body. Now CBS is working well for me.
Catechol-O-methyltransferase helps to break down norepinephrine, epinephrine and dopamine. It will also cause estrogen dominance. I call this gene the panic disorder hell gene when high doses of methyldonors such as l methylfolate and methyl b 12 are given. I am homozygous for COMT V158M, H62H. I am also homozygous for COMT rs id 6269 and heterozygous for COMT rs id 10995990. I clearly have trouble breaking down these catecholamines. Knowing what I know now, I remember the day my panic disorder was triggered and it all makes so much sense now that I look back. In 1994, I went into anaphylactic shock from a non steroidal anti inflammatory (classic mastocytosis) and was given epinephrine. Panic disorder set in that day. About eighteen months ago I was given 6mg of l methylfolate and told to take 5mg of methylcobalamin in sublingual form, the panic disorder got so intense after a few months, I thought I was going to die. So knowing this, I have cut back to 800mcg of folate manufactured by Quatrefolic which is twice as potent as l methylfolate manufactured by Metafolin. So it is like taking 1.6 mg a day of l methylfolate by Metafolin. I have removed the methylcobalamin and have replaced it with 2000mcg of sublingual hydroxycobalamin. Panic attacks that I am having now are less and less. Maybe once a month instead of five times a day.
I am told that if VDR Fok, Taq and/or Bsm are present that it will usually cancel out the methyl donor sensitivity. I do not have any of these VDR mutations.
These are just a few of the genes that play a role in methylation but are very critical to treat when addressing MTHFR. So for all of you doctors and nutritionists who think you can still put everyone on a “one size fits all” protocol for MTHFR, know this, YOU CANNOT! Our DNA is part of what makes us all different so why are doctors still putting people on the same protocol? And no more excuses about testing. If Amy Yasko’s test is not affordable for the patient, 23andme is helping many heal. There are also plenty of resources out there to read the raw data. I read raw data daily and at a very affordable price.
The end result of treating MTHFR is methylation. So if methylation is working, glutathione is being created. If glutathione is being created, you will then remove toxins and metals from the body. Many people who are wanting answers and guidance are coming to MTHFR Support on Facebook to interact with people who are knowledgeable about methylation. https://www.facebook.com/mthfrsupport