Let's start with some definitions and meanings that y'all may remember from Biology class.
Homozygous- both copies of the gene are mutated. Enzyme is 70% defective.
Heterozygous- one normal copy, one mutated. Enzyme is 30% defective.
Compound Heterozygous- multiple alleles. In both alleles, one normal and one mutated. 50% defective.
ACE- Heterozygous. Impacts sodium retention. Surprised this was not homozygous but it's a pleasant surprise. This suggests that I am genetically suited to middle distance running, which I already knew.
MTHFR- Homozygous on 677, which is the worst mutation to have. Not a surprise given what's going on. The 1298 allele is normal however so it could be worse.
COMT- Compound hetero. I feared the worst on the one and I suppose hetero cases respond better to treatment. This one likely affects my zinc/copper and methylation.
CBS-Compound hetero. I expected this. The mutation is responsible for the taurine issues. In the past, taurine has been both a life saver and a nightmare.
VDR- Compound hetero. This one affects Vitamin D metabolism. My Cal supp contains D so it may have impacted the Cal/Mag sensitivity.
Overall, this one looked pretty good. One mutation that stuck out was a double homozygous result on SOD 2. There is evidence that suggests that this one is preventing me from reaching my max heart rate. That makes a LOT of sense to me. I don't wear a heart rate monitor but I'm sure that when I was cranking out sub-7:30 workouts with ease, my heart rate was indeed fairly low. The workouts were NOT too hard. I often under-performed in races because I just could not access the top gear needed to get up to 185 BPM. It's like stripping an 8 cylinder engine down to 6. If I can fix this one, it could be HUGE.
NOS- Homozygous here as well and I just read that can make the CBS issues worse. That makes sense too.
Still premature to say how this will impact the rest of my life. I'll know a lot more after I talk to a health coach.
-I'm going to try to increase my folate to fight the MTHFR. My diet is a bit deficient in greens. I will need 5-Methyl folate if I can tolerate it.
-Ordered B12 in the correct form (Hydroxyl rather than methyl or cyano). This form is well tolerated by those with COMT issues. I already know I can't take the methyl.
-Ordered a SOD supplement.
-Picked up some Ribose. Evidence suggests that my mitochondrial function is poor as is my ATP production.
-Stay with AllinOne for general detox support.
-Stay with Cal/Mag+Thym-Adren for fast oxidation.
In the last 2 years, I have improved my Mag and copper status, which are critical minerals for energy production yet I've gotten worse. It could be that my extreme fast oxidation compensated for weaknesses in ATP and mitochondrial function.
I remain very sensitive to methyl donors but I cannot know for sure my methylation status until I do a whole blood histamine test, which is not available on Request a Test. The cause of the sensitivity could be over-methylation, the mutations or toxic metals.
Another rant about doctors:
Homocysteine, which was the only lab value flagged in 2005, is more dangerous to the cardiovascular system than cholesterol yet my MD totally dismissed it. Given that I have the MTHFR defect, I'm sure it's still high. He also said that it was easily treatable with a B-complex. WRONG! Most cheap B complexes do more harm than good. In particular, folic acid is terrible for the MTHFR defect. It's got to be 5-methyl folate. COMT patients have trouble with B6 especially if tissue calcium is low. Also, most B12s are cyano, which contains a toxic molecule of cyanide. BAD stuff. The MD also said that since Bs are water soluble, they can't hurt you because you just pee out the excess. Why did my whole body stiffen up within minutes of taking the B6?