Thanks to Jennifer Esposito's post—which crossed my path as I've been dealing with my own funky health issues (even though I eat one of the healthiest diets on earth)—I requested this blood test.
Lo and behold, I have two copies (homozygous) of the MTHFR gene mutation A1298C. (If you've ever had any chronic health challenge—impacting the body or brain—check out Neil Rawlins, M.D., in the video above, to see if it might be wise for you to consider this test, too.)
I'll let Dr. Erlich explain...
"There is much confusion about MTHFR genetic mutations... Consequently the MAJORITY of people unknowingly carry a genetic mutation that can contribute to significant health issues—health issues that can be minimized by just taking a couple inexpensive B vitamins.
"What does the MTHFR mutation do? Having a MTHFR mutation means that the enzyme that converts folic acid into it’s activated form (5-MTHF) acts sluggishly. Having two defects at the same point makes it more sluggish than just having one... Thus when an enzyme is sluggish, the biochemical reaction that relies upon it occurs slower than it should. When one pathway is working slower than others, the other pathways that depend upon it either back up or find a detour to shunt their excess product...usually not as efficient, using more energy (ATP)...often causing new problems to be managed.
"The MTHFR enzyme metabolizes folic acid into 5-MTHF, needed to combine with homocysteine to break it down and to facilitate methylation processes in the body...
"Methylation is required for many processes in the body, from breaking down histamine, seratonin and dopamine to turning DNA on and off. Consequently, having a defective methylation capability is associated with psychiatric illnesses ... autoimmunity disorders, ADD, autism, spina bifida, Down’s syndrome, miscarriages, and cancer. Defective methylation can come from not having the 5-MTHF or not having enough B12, so the disorders and symptoms associated with the MTHFR mutations often overlap with those due to B12 deficiency. Many may simultaneously have deficiencies in both.
"While I don’t test every one of my patients for the MTHFR mutation, I certainly try to test everyone who has a family history of cardiovascular disease, mental illness, autoimmune disorders, spinal cord defects, cancer or miscarriages. As these disorders are all too common, this explains why I end up ordering MTHFR testing, as well as B12 levels, on the vast majority of my patients.
"I find that knowing your MTHFR status is far more empowering than it is scary. It allows you to provide your body with what it needs to function most efficiently and hopefully prevent disease. Finding that you have a mutation, or even two, also encourages you to get your other family members tested. Parents and siblings may likely also carry this mutation and often benefit greatly from the additional knowledge and support."
My nutrition training taught me to ideally only take a Methyl B12 supplement. Now, though, due to my specific MTHFR test result, my doctor has me taking a few additional supplements, to see which can do the work that the double gene mutation cannot. In a couple months, I hope to know. ❤