NEW POLL:
http://forums.phoenixrising.me/index.php?threads/bh4-gch1-question.35140/
I've been doing a lot of research on BH4 these last few months to see how it fits in with ME/CFS. It's turned out to be a rich vein to mine, and I'm convinced it's an important part of our pathophysiology. I've personally found BH4 supplementation to be incredibly helpful and so have a lot of my friends. I'm now working on getting a grant to do a pilot study on BH4.
GCH1 is the gene that encodes the first rate-limiting step for synthesizing new BH4. If you have a double mutation of GCH1 you make about 80% less BH4 and get a form of PKU. If you have a single mutation you may get dystonia, but you will definitely make less BH4:
http://www.ncbi.nlm.nih.gov/pubmed/18598896.
When I started taking BH4 it was a revelation. I found out what it meant to be "normal" instead of insanely moody - and nearly suicidal when I was doing the Cutler protocol. That first dose completely brought me back to good in 30 minutes. Besides depression, BH4 alleviates anxiety, improves concentration and even helps me to prevent crashes. I took BH4 during an exercise stress test and failed to crash. Bad news for my SSDI chances but potentially great news for PWCs.
MTHFR SNPs alter the folate cycle that turns the BH4 salvage pathway. If you have this mutation, and you feel better on L-5MTHF, chances are you are using the additional BH4 to make serotonin and dopamine. That's because BH4 is an essential cofactor for making all of the monoamines. Without enough BH4, you will not only be low in serotonin and dopamine, but also melatonin, norepinephrine and adrenaline.
BH4 also helps you make NO. If you are low in BH4, you will make NO, SOD and ONOO- or nitric oxide, superoxide and peroxynitrite. When you make too much peroxynitrite it oxidizes most of your BH4. That leads to a vicious cycle called NOS uncoupling which makes you chronically ill. Peroxynitrite passes through cell walls and selectively destroys mitochondria. It also overactivates your sympathetic nervous system which causes post-exertional malaise.
When you have both a GCH1 SNP and an MTHFR SNP you get double trouble. You don't make enough BH4 and you don't recycle it efficiently. Add to the mix other methylation defects (the cycles are interlinked), high viral titres, wounds, colds and flus then you really start to feel bad. Fatigue, brain fog, insomnia and depression are just a few of the possibilities.
Add aluminum poisoning to the mix and your life really goes down the tubes. Besides replacing iron in the body, aluminum blocks the recycling of BH4. Aluminum is routinely added to our food, water, hygiene products and medicines. According to a group of toxicologists who just published a report last month, the worst source of aluminum intoxication is vaccines.
Where You Come In
Please look at your 23andme results and let me know if you have the GCH1 SNP. You can also run your raw data through Promethease and search the report. Then, if you would be so kind as to post your results and vote in this
poll, I would really appreciate it. If you would also post your MTHFR status that would be doubly great.
Mimi
Instructions for using Promethease to find out if you have a GCH1 mutation:
1) Get your 23andme.com test done. It costs only $99. If you do two people at once there may be a discount.
2) Once you get notified that your results are available, go to
www.promethease.com.
3) Read/Check all the boxes that say you agree.
4) Click the button to go to 23andme.com.
5) Login to your 23andme account.
6) Click the green button that says yes, grant access.
7) Click the blue button to Pay with Card. The analysis only costs $5.
8) Save it to your computer somewhere where you can find it. When I did it, it was a web page.
9) Open your Promethease report and click Show Everything in the upper right-hand corner.
10) Type Ctrl+F (hold down the Control key and press “F”). A search box will appear in the very upper right.
11) Type GCH1 into the box. If the page doesn’t scroll down, click the down arrow next to the search field.
If you have any mention of GCH1 in your report, the find function will take you right to it.
Mimi
