Friday, August 28, 2015

Overview of mutations

MTHFR- Homozygous.  Impairs folate metabolism.  I need 5-Methyl folate, NOT folic acid.  Though this is often considered the worst mutation to have, I seem to be managing it fairly well.  I take a relatively small amount of Methyl folate (200 mg) as part of my Jigsaw Mag and have tolerated it pretty well.  When I tried to go off the Jigsaw earlier this year, I knew within 2 days that I would not work.

CBS/NOS- Compound hetero on CBS.  Homo on NOS.  If you've been reading for the last few months, you know that this one is a "priority" mutation and has given me fits. By priority, I mean that it must be treated first before tackling methylation. Treatments such as charcoal, CBS/NOS caps, CBS drops, Sparga and orinthine have all been MASSIVE failures and caused intolerable fatigue and depression.  This is actually an upregulation (overactive) enzyme in the trans-sulfur pathway.  Patients with these mutations are likely to see high levels of taurine without supplementation and toxic ammonia.  I feared the worst but my results were not too bad according to my UAA test.  Taurine was mildly high but could come down now that I've been off it for several months and ammonia was within range. If the genetic defect is not expressing itself, there is no need to treat it.   Patients with this defect need to limit B-6 as well as methyl donors because they contribute to buildup of sulfur.  However, as I will explain, it does not offset a MTHFR defect.  Patients with MTHFR and CBS still need methyl folate but must limit it because it will worsen the sulfur burden.  Is the sensitivity beginning to make sense now?

SUOX- 23and me does not test the key SNP (370A) so I am not 100 percent certain that I have it but all signs point in that direction.  Patients with this mutation will have very high sulfites and sulfates and I've heard it can really wreak havoc by causing a bottleneck in the pathway, which can lead to intolerance to methyl as well as other treatments that should work in theory.  That sure sounds a lot like me.  The only effective treatment that I've found is the SUOX drops and I must be judicious early.

NDUFS- I have tested homo here as well.  This is a mitochondrial weakness, which robs me of my top gear in races and explains why I often under-performed relative to my workouts.  CoQ10 is the recommended treatment here and so far so good with Yasko's spray.

GAD- Compound hetero.  I haven't discussed this one much and don't think it is expressing much.  In these cases, taurine is HIGHLY recommended but once again, it does not offset a CBS upregulation and patients will have to be meticulous to take an extremely narrow range.  (2 pills may work but 3 are too many) and a single dose could be the difference.  Fortunately, this gene does not seem to be active at this time.

COMT/VDR- This one impacts dopamine production and is one of the rare cases that mutations do cancel each other out.  I am compound hetero on both and as I understand, it is better to have both mutations than one or the other.  This one also tells you which B-12 to take, which in my case is hydroxy but there is another complication as I will explain below.

MTR/MTRR- Homozygous on both.  In this case, methyl B-12 is NEEDED and I've read that it is THIS mutation, not the SUOX that is responsible for my VERY LOW methionine.  I will be VERY
 CAUTIOUS with both hydroxy and methyl B-12.  Even if the methyl B-12 fails, taking the TMG should be better than nothing.  Once again, I am faced with a situation where a treatment is needed but cannot be tolerated due to issues with CBS, SUOX and COMT so hello sensitivity.

Oxidation rate:
I have not done a hair test this year and intend to wait until I get at least some handle on the methylation.  I do suspect that by doing so, it will be easier to get my numbers in balance.

Mercury amalgams:
I am continuing to go back and forth.  I've heard reports that it was the key to getting your life back while others contend that it made them worse or had no real impact.  If I am to do it, it will be after all else fails with a denty certified under the safety protocol.  I will not rush into a potentially risky procedure than cannot be undone.

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