Genetic testing and predisposition

I have found that those who have ME/CFS also have particular single nucleotide polymorphisms (SNPs) that predispose them (me among them). Although there are a number of "triggers" (bad illness, food poisoning, stressful situation, etc) that set off the cascade that ultimately results in the symptoms related to ME/CFS, there seems to be underlying SNPs at work. These particular SNPs are small pieces of our DNA that are replicated 24/7, inherited from our parents, and are responsible for methylation-related enzyme activity.
For example, one common enzyme (among many) referred to as MTHFR or Methylene Tetra Hydro Folate Reductase, is responsible for enabling many biochemical processes in the body. One of those "methylation" processes has do to with clearing heavy metals, clearing certain prescription meds, clearing estrogen metabolites and more, from our bodies via Phase II liver function. If the body is burdened by exogenous toxins (estrogen metabolites from BCPs or meds, etc.) or endogenous metabolic byproducts (prescription drugs or toxicants from food or vaccines, etc.), the enzyme pathway can't keep up and the body sequesters the toxins. Over time, they can build up and predispose us to ME/CFS when a trigger occurs.
It is not uncommon for folks to have one nucleotide swap in the segment of DNA that codes for MTHFR. One simple nucleotide swap out of the sequence of 51K nucleotides that codes for the MTHFR enzyme can cause the enzyme to work less efficiently. As a result, everything down stream is affected. Besides a Phase II liver pathway that requires effective methylation, there are other biochemical pathways that are effected by a MTHFR SNP. These include serotonin and dopamine production.
There are multiple identified swap locations that correlated to symptoms when that are triggered. In some cases, a person could have a single swap or a double swap; one swap is referred to as a heterozygous SNP and two is referred to as a homozygous SNP. In any case, those folks need to ensure that the co-factors required for the SNP (e.g. MTHFR C677T SNP) to do its thing, are present or else the crippled MTHFR is further impaired. The co-factors are specific vitamins and minerals. If those specific vitamins and minerals are present in the proper form (e.g., magnesium, 5 methyl tetra hydrofolate, methyl-B12) then MTHFR can do its optimal job. There are other methylation-related SNPs that effect biochemical pathways that can predispose folks to ME/CFS.
Anyway, there is a website thats being set up by Feb 2013 that will address SNP testing, results and solutions. In the meantime, look for a Functional Medicine practitioner in your area, or a nutrigenomic practitioner who can administer the testing and suggest targeted vitamin/mineral supplementation. In Chicago, you can try www.lifezonewellness.com

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Cynthia Smith
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