Here is my write up, but again I think I need the dummies guide to the write up...
(Chart above and explanation taken from Genetic Genie.org)
MTHFR Mutations
First we'll look at a few of your MTHFR mutations. According to research, these mutations are important and can
be implicated in various disease states.
You have 1 heterozygous (yellow) mutation(s). These are generally not as bad as red homozygous mutation, but
they may still worth paying attention to. They include:
MTHFR A1298C
Now let's move on to discuss what these MTHFR mutation(s) mean.
MTHFR A1298C
MTHFR A1298C is involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF). Unlike MTHFR C677T,
the A1298C mutation does not lead to elevated homocysteine levels. This reaction helps generate BH4. BH4 is
important for the detoxification of ammonia. The gene is compromised about 70% in MTHFR A1298C (+/+)
individuals, and about 30% in people with a heterozygous (+/-) mutation.
BH4 acts as a rate limiting factor for the production of neurotransmitters and catecholamines including serotonin,
melatonin, dopamine, norepinephrine, and epinephrine. A MTHFR A1298C + status may cause a decrease in any
of these neurotransmitters or catecholamines. BH4 is also a cofactor in the production of nitric oxide. A
dysfunctional BH4 enzyme may lead to mental/emotional and/or physical symptoms. Mercury, lead, and
aluminum may act as a drain on BH4.
Methylation Profile generated by GeneticGenie.org Page: 3 of 6
All of Your Other Mutations
Now we are going to look at all of your mutations. You do not necessarily need to worry about all of these
mutations, but certain mutations may cause problems in certain individuals. Genetic Genie does not look at the
expression of your genes, it only looks at specific gene SNPs. Keep in mind that even if you are homozygous or
heterozygous for a certain mutations, it doesn't necessarily mean there is a problem with the functioning of that
gene. You have 4 homozygous (+/+) mutations and 5 heterozygous (+/-) mutations.
Here are your homozygous mutations as indicated in your SNP gene table above (not including MTHFR):
MAO-A R297R
MTRR A66G
BHMT-02
BHMT-08
Here are your heterozygous mutations as indicated in your SNP gene table above (not including MTHFR):
VDR Bsm
VDR Taq
MTRR A664A
CBS C699T
CBS A360A
CBS Mutations
CBS (cystathionine beta synthase) catalyzes the first step of the transsulfuration pathway, from homocysteine to
cystathionine. CBS defects are actually an upregulation of the CBS enzyme. This means the enzyme works too
fast. In these patients, it's 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 CBS upregulation has been clinically
observed to result in sulfur intolerance in some patients. It has also been observed that BH4 can also become
depleted with a CBS upregulation. BH4 helps regulate neurotransmitters and mood. Other mutations, such as
MTHFR A1298C, Chronic bacterial infections, and aluminum can also lead to low BH4 levels. Lack of BH4 can
lead to mast cell degranulation and possibly mast cell activation disorder (MCAD).
Note: While some physicians think the CBS mutation is one of the most important mutations to address, there is
very little medical research to support these claims and some doctors in the field disagree. In normal populations,
studies have shown CBS upregulations to be protective against high homocysteine. However, CBS upregulations
have shown to be harmful in Down Syndrome. Medical research has not determined if CBS upregulations are
harmful in those with syndromes or disorders leading to impaired methylation.
MTR/MTRR Mutations
MTRR (Methionine synthase reductase) helps recycle B12. The combination of MTR and MTRR mutations can
deplete methyl B12. MTR A2756G, MTRR A66G, MTRR H595Y, MTRR K350A, MTRR R415T, MTRR S257T, and
MTRR A664A all work together to convert homocysteine to methionine.
MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) provides instructions for making the enzyme
methionine synthase. Methionine synthase helps convert the amino acid homocysteine to methionine. To work
properly, methionine synthase requires B12 (specifically in the form of methylcobalamin). An MTR A2756G
mutation increases the activity of the MTR gene causing a greater need for B12 since the enzyme causes B12 to
deplete since it is using it up at a faster rate. Mutations in MTR have been identified as the underlying cause of
methylcobalamin deficiency. Megaloblastic anemia can occur as a consequence of reduce methionine synthase
activity.
A homozygous mutation of MTR A2756G is not very common (<1% of CEU population). Some studies have
demonstrated that people with a combination of MTHFR C677T and MTR A2756G have persistently high
homocysteine levels unless they are treated with both B12 and folate.
