My Results And Symptoms

[The_dude]

I have received the results for MTFHR. They do not seem too bad, but I just started delving into the science. Of particular interest, I found:

- MTHFR A1298C: BH4 acts as a rate limiting factor for the production of neurotransmitters and catecholamines including serotonin, melatonin, dopamine, norepinephrine, and epinephrine. A MTHFR A1298C + status may cause a decrease in any of these neurotransmitters or catecholamines. BH4 is also a cofactor in the production of nitric oxide. A dysfunctional BH4 enzyme may lead to mental/emotional and/or physical symptoms. Mercury, lead, and aluminum may act as a drain on BH4. (Comment) I am depressed, have low serotonine and horrible sleep issues. However, I think my (nor)epinepherine might actually be too high because I have symptoms of POTS.

- CBS A360A: It has also been observed that BH4 can also become depleted with a CBS upregulation. BH4 helps regulate neurotransmitters and mood (Comment) Note the mention of mood again. It seems like both mutations are dropping the BH4 levels.

This is my limited reading so far. Can someone shed more lights on the results? I might be very wrong in saying "not too bad".

 

[Learner1]

It would be useful to have a robust nutrient test, like a Genova Diagnostics NutrEval. The SNPs on the report suggest you might need extra folate, B12, and glutathione, however your environment can be more powerful than what your genes suggest. That is, "bad" SNPs may not be triggered and may not be causing any problems at all. The testing could identify any actual problems and provide guidance for what you can do.

You might also enjoy the attached which mention BH4.

 

[The_dude]

Thank you. Adding more details below. Note the SOD gene. Truth is, most of my male family members seem to have some hearing loss. I think, at the age 25, I have some as well. It started as tinnitus in right ear. But I have issues with my ears in general, lots of earwax, clicking, popping of Eustachian tube that is not fixable and ear pains. Any comments on the below though?

 

[Learner1]

I have similar SNPs, along with a few more. You can see how common they are in the Genotype Frequency column. In my case, they interacted with the environmental factors resulting in significant toxicity, damaged mitochondrial membranes, and stage 3 cancer.

To deal with my situation, my doctor has me do a Genova Diagnostics NutrEval every 9-12 months. We use it to customize my supplement program. I tend to run short of B12, B6, B2, B1, folate, glycine, phospholipids constituents, and antioxidants.

I've chelated much of the toxicity out of me and am on a maintenance program and eat an organic Paleo diet. (And I beat the cancer.)

If you dig into the oxidative and nitrosative stress document, it describes how mitochondrial membranes can be damaged by superoxide radicals which isn't helped by lack of SOD and tendency to produce peroxynitrites due to the BH4 problem.

You might look up the Kennedy Pathway in regard to phospholipid production. I take a product called NT Factor from Allergy Research or Nutricology for lipid replenishment of membranes.

The attached document is by a researcher who's done a lot of work in this area. My supplement program includes everything on the list of supplements he discusses.

 

[bjl218]

@Learner1, what clued you in to your glycine deficiency? I'm looking at my NutrEval and I don't see a specific mention of glycine.

BTW, congratulations on beating cancer. That's fantastic!