I did a Q & A with him to share with readers who might want more information on the topic of the MTHFR gene. There are several genetic variants. The C677T mutation and the A1298C mutation. Knowing you have the mutation can help you take steps to prevent issues from occurring in the future and can help you to get a handle on whether a faulty MTHFR gene is having an impact on current health problems.
Answers by Dr. Tim Jackson, DPT, who can be reached at: firstname.lastname@example.org.
Q: I was diagnosed with a double copy of the A1298 MTHFR genetic mutation. What does this mean?
A: In general, the A1298 SNP is more associated with neuro-immune issues, while the 677 version has more to do with cardiovascular issues. It is not uncommon to find individuals with Autism, Alzheimer’s, Parkinson’s, etc. to have the A1298 MTHFR SNP.
Q: What should I do about it?
A: This topic is too broad for me to cover here, but there are likely other SNPs being expressed that need to be addressed before MTHFR. In addition, you should make sure your gut is healthy before detoxing the liver too much. Otherwise, you may reabsorb the toxins.
Q: What is an MTHFR genetic mutation?
A: The MTHFR enzyme specifically helps with the conversion of folic acid to methylfolate, the biologically active form that our cells can use. Why is this enzyme so important? We need methylfolate and the methylation cycle as a whole to make glutathione, our body’s major detoxification molecule and free radical scavenger. In addition, methylation is involved in T-cell production(an important immune molecule), as well as the production of serotonin and dopamine. In short, methylation affects every system of the body either directly or indirectly. Technically, a MTHFR genetic mutation is a SNP, or single nucleotide polymorphism. Our DNA has a four-letter alphabet consisting of A, T, C and G. A SNP means the wrong letter was put down in the wrong place at the wrong time. This makes the enzyme that that particular gene is coding for less efficient. However, just because we have a SNP does not mean it is being expressed. Any type of stressor can trigger a SNP to be expressed—a car accident, a traumatic birth, emotional stress, poor diet, etc.
Q: What conditions are associated with a MTHFR genetic mutation?
A: It’s probably easier to list the conditions that aren’t associated with it! Here’s the short list: autism, Alzheimer’s, Parkinson’s, ALS, several types of cancer, PCOS, thyroid disorders, depression, insomnia, and many, many more.
Q: Who should get tested to see if they have the MTHFR genetic mutation?
A: I encourage anyone with any nagging symptoms that affect several bodily systems to get tested, as well as anyone with any of the above named conditions.
Q: Why do some people who have this genetic defect and are prescribed 5 methylfolate for it not do well?
A: There are a few reasons. One potential reason is that they may have other SNPs that may need to be addressed prior to working on MTHFR. A CBS SNP is an example of this, as it can potentially make supplementing with B12 and methylfolate cause a worsening of symptoms. CBS is a SNP that, if expressing, may cause elevated sulfate and ammonia levels. If it is not addressed before one supplements with B vitamins, those levels may further increase. Another reason may be that that person may detoxify too quickly and may need to be on a much lower dosage of B12 and methylfolate.
Q: What type of doctor would understand this condition?
A: Great question! This is not taught in medical school or even naturopathic school. You have to learn this information on your own. Methylation connects a lot of bodily systems so there is a huge potential loss of revenue for Big Pharma if methylation is addressed. By the time a certification process is established for this information, newer, more relevant information will be available. People who have studied this information are early adopters in general.
Q: Where can people go to have this test done and who can properly advise them about what steps to take to offset this condition?
A: If you only want to be tested for MTHFR, you can have it done at Labcorps or your local lab. If you want to look at the other SNPs that play a role in the methylation process, I recommend doing the 23andme test. As far as who can advise you on the results, geneticists generally do not understand this field of epigenetics—meaning that genes can be switched on or off by environmental signals. They’re stuck on genetic determinism, i.e., if you have a mutation there is nothing that can be done about it.
Q: It is so confusing (even for many doctors.) What resources can you point people toward so they can inform themselves and get help?
Thanks to Dr. Tim Jackson, DPT, who can be reached at: email@example.com .
For more information on his practice, go to Dr. Time Jackson on MTHFR Support or find info on/like Dr.Tim Jackson on his Facebook page.