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What are RefSNP Alleles?

  3 years, 7 months ago

RefSNP alleles are the alleles submitted by genetic researchers for a particular SNP. for example CBS C699T has RefSNPs A/G. This means that the researcher found A on one chromosome strand and G on the other, at the gene location for CBS C699T.

RefSNP Alleles for a particular gene location in a genome build, are submitted to dbSNP by multiple genetic researchers. Each SNP will usually only have two RefSNP alleles. When different researchers submit conflicting information about RefSNP alleles, then it is possible for more than 2 alleles to be listed for one SNP, making it more difficult ... ..more

What does it mean to "spare dopamine"? As mentioned in the above COMT discussion. Not use it? Not create it?  ..more


What does a CBS Gene Mutation mean ?

  4 years, 1 month ago

CBS (cystathionine beta synthase) catalyzes the first step of the transsulfuration pathway, from homocysteine to cystathionine. Dr. Yasko considers addressing CBS mutations as first priority aside from addressing the gut.
This enzyme converts homocysteine to cystathionine. In a separate reaction, cystathionine is then converted to cysteine which in turn goes to taurine or glutathione among other things.

CBS defects are actually upregulations. This means the enzyme works too fast. Therefore, it is common to see low levels of cystathionine and homocysteine since there is a rapid conversion to taurine. This leads to high levels of taurine and ammonia.

The upregulation ... ..more

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To learn more about COMT Gene:
Dr. Richard Deth PhD

Dr. Jill James PhD
1) http://www.ucdmc.ucdavis.ed... (2006 lectures, please scroll down for oxidative Stress Lecture as well).

2) http://www.ucdmc.ucdavis.ed... (2010 Lecture Methylation/Oxidative stress).

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CBS C699T cystathionine beta synthase AKA The Hole in the Bucket. This Priority # 3 Mutation
Tip! It is crucial to address any gut issues before you thoroughly address the CBS defect. Since chronic gut issues lead to higher bacterial loads, thus leading to higher ammonia production as well as leaky gut (reducing nutrient absorption and increased risk for food sensitivity) this area is paramount. You can begin to address the CBS prior to fully addressing gut issues though they should be done in concert. Since the CBS is one of the most important issues to address, I’ve decided to ... ..more