OMG! Thank you Valentijn! A voice of common sense!!! I have said some of what you've said before, but not so authoritatively...I freaked out when I got the CBS mutatins back (we all did who have them) only to reason out that it was a crock because I had had my homocysteine measured and it was high! So the CBS does not help me significantly (or do anything significant to me).
However these genes are extremely significant for methylation because I took a B100 vitamin my entire life (since a baby) and still had HIGH homocysteine. These genes are the reason I needed the active methylation protocol. But it DOES work for me.
I also was advised to limit methyls and that I would have trouble excreting ammonia. And I observe that indeed I do have trouble excreting ammonia IF I eat a TON of protein. On a normal 80-g of protein diet I have no trouble excreting ammonia (and I tested this twice via blood level ammonia test). So no need for yucca, charcoal, or levulose. Now Atkins and Paleo diets are popular now so people who eat high protein diets (which incidentally are cancer causing) may well indeed have problems eliminating ammonia with similar genes, but IMHO the solution is to fix the diet.
The ACE gene causes hypertension and so does the NOS gene and a 3rd gene - dunno which one but I think it's CBS - anyway, I have extremely high blood pressure as a result and can only control it with hormone replacement (DHEA+calcium+magnesium). I just had an ultrasound of my arteries and have no plaque and anyway my blood pressure went from normal to stage 3 hypertension in ONE day, and indeed only went high during PMS then back to normal, so clearly is not due to fat in my arteries.
You glossed over some important ones...The VDR one means that I CANNOT hang on to vitamin D. I have to take 50000 IU D/week (I take a 10,000 pill 5 days a week) or my Vitamin D goes very low and this causes cancer. It causes inability to absorb calcium which will certainly affect joints. In fact my whole life I was insatiable for calcium...I would get up in the middle of the night no matter how tired to take my evening dose if I forgot, and during PMS I had to take a TRIPLE DAILY DOSE and my back would feel like it could not support itself and would surely break. I could not relax w/o excessive calcium and in fact had some trouble relaxing anywa. Now that I have brought my D levels to 70 I could care less regarding calcium, I no longer insatiably crave it. However I have to remember to take it for my blood pressure. Unfortunately now it's like any other supplement and forgettable.
My genes are confusing regarding neurotransmitters because I always test low in dopamine despite COMT +/+ and always test low in serotonin. I take 1-3g/day tyrosine to assist with dopamine.thyrozine, and one of the adrenal hormones. I had tried 5-HTP in the past with no effect. Not sure if I ever tried tryptophan (it used to not be available). The problem with Yasko's gene panel is that it is not complete. No doubt there are other genes that also effect neurotransmitter levels. For instance, there are other genetic mutations of CBS that apparently DO effect homocysteine levels more significantly than the ones Yasko maps (as far as I can tell).
I never have any effect from taking methyls...they do not bother me and I consider then anti-cancer and so would never stop taking them. I eat eggs, I take a broccoli supplement (cysteine), and milk thistle (also cysteine). I have, however, noted that despite how good for you it is supposed to be that I cannot tolerate more than 10 minutes in an Epsom salt pool (Mg sulphate) so maybe there is some excess of sulfur/methyls I cannot take but normal dietary ingestion does not have any effect on me.
MTHFR A1298C - my father was homozygous for that and it killed him. You guys are only looking at what you care about, but BH4 production is required for kidney function. I had my father's BH4 level tested via Metametrix when he was forced to go into dialysis and he had ZERO. He was never himself again after he went for dialysis...it affected his mental processes and caused him to die of a heart attack (which is commonly how those on dialysis die). Even heterozygous it affects BH4 production. I don't know how much but I don't believe you do either. However among the things that raise BH4 is estrogen and I use hormone replacement. I believe it regulates that gene to good effect. I also believe there is a tie between that gee and hereditary diabetes which runs in my family and which everyone on my Dad's side of the family died of. I am not saying it has any effect on methylation or on joints, but it is serious.
Lack of methylation effects joints. If I do not take a ton of supplements I cannot methylate properly. (homocysteine shows this clearly). For one thing Life Extension has found that SAMe (the universal methyl carrier) can be used effectively against osteoarthritis. There are ties from these genes to arthritis therefore. (And in fact if I fall off on methylation supplements I get severe joint pain and weakness).
However that does not mean THIS joint pain is from that. I do know that I am taking enough methylation supplements at present to cause mosquito bites to stop itching in 10 minutes (instead of for weeks which was the case prior to me taking Freddd;'s active B protocol). However I observe that my homocysteine is not a normal 6.3, but in fact 9.something. And something else I've noticed...when I take enough supplements to get my homocysteine down to 6.3, I can sleep on my side w/o crushing my veins so that my blood can't circulate. (When I got my homocysteine down to 6.3 for the FIRST TIME since I was 5 years old I found I could sleep on my side and my vins would not collapse!). Not the case right now. But I cannot bear taking 40 pills a day as it nauseates me so I am trying to do my best with less. To get to 9.x I take 2 Thorne Basic B, 50mg P5P, 800mcf mfolate, 1g TMG...but I have to take many support vitamins like zinc, D, mg, anti-oxidants, K, etc. So I am just listing bare bones protocol. To get to 6.3 I took all the above PLUS 1 more g TMG, 1 mB12 sublingual. idk if I need the mB12...I quit taking it when my homocysteine was still 6.5 w/o it...but who knows over time if that moved? It costs money for all these test sand there are s many permutations.
I REALLY thank you not only for the common sense that many of these genes are not the disaster many people seem to think, but also for the info on BHMT and AHCY genes about which I know nothing (and therefore have ignored with no obvious ill effect).[/quote]