As a follow up to this post http://www.martincwiner.com/23andme-unboxing-and-mthfr/ I have received my MTHFR results. As a recap, I have had several chronic conditions, all of which have not been resolved after seeing many specialists for 12 years now. I suspected an MTHFR (methylation) error, but wanted to prove it. I used 23andme.com to produce my genome and I had it analyzed using free tools online.
I have 5 critical mutations relating to methylation:
The red arrow is pointing out the MTHFR result. This legend below explains the colouring in the ‘Result’ column:
Methylation Pathway Comparison
Methylation is a key biochemical process by which genes are turned on and off.
Methylation Pathway:
My Methylation Pathway:
The red circles denote a partial or complete failure point
What follows are more details on the given mutations
VDR Taq ++
VDR Taq TT = +/+ (red, complete defect) tolerates more methyl donors
Partial or complete defects may mean you will not readily absorb Vit D from sun exposure. This may also contribute to seasonal depression, particularly when the sun is at it’s lowest in the fall/winter season. Many studies in the past decade have noted a strong correlation between Vitamin D deficiency and neurological degeneration. In fact, aside from having implications in Parkinson’s and dementia, this SNP is highly associated with Multiple Sclerosis and “atypical” MS. Yet along with the COMT enzyme, the VDR also clearly impacts dopamine levels.— http://resqua.com/702188759/what-is-the-significance-of-a-vdr-taq-gene
MAO-A R297R ++
MaoA is involved in the breakdown of serotonin in the body. Like dopamine,serotonin is another neurotransmitter in the body. It is involved with mood,and imbalances in serotonin levels have been associated with depression,aggression, anxiety and OCD behavior.
MTHFR C677T +-
One function of MTHFR (Methylenetetrahydrofolate reductase) is to help convert homocysteine to methionine. A MTHFR C677T mutation means that the MTHFR enzyme may have trouble performing its task leading to high levels of homocysteine. According to Dr. Ben Lynch, impaired function of the enzyme can cause or contribute to conditions such as Autism, Chronic Fatigue Syndrome, Fibromyalgia, Miscarriages, IBS, many birth defects, Multiple Sclerosis, Alzheimer’s, Bipolar Disorder, blood clots, Stroke, Chemical Sensitivity, and many other conditions.
MTHFR C677T can also lead to high homocysteine. High levels of homocysteine can be related to MTHFR C677T mutations. While homozygous (+/+) or heterozygous (+/-) mutations indicates reduced activity of this enzyme, it does not necessarily mean there will be high homocysteine levels in a clinical setting.
As S-adenosylhomocysteine (SAH) accumulates, the COMT enzyme may become impaired. Inhibitiion of COMT can increase dopamine levels in COMT V158M (-/-), but for those with COMT V158M (+/+), the high level of SAH can lead to behavior problems and mood swings according to Dr. Amy Yasko.
While the colour coding indicates that it needs less support than the red colour, but that’s only because the report is computer generated. MTHFR is a core gene for a central system (methylation) which is so important, that any deficiency confers long term illness. The +- genotype is not as bad as the ++ genotype, but it means that my critical enzyme in the methylation process is working at around 60%. This is a long video but worth every second:
MTRR K350A +-
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).
BHMT 02
BHMT (betaine homocysteine methyltransferase) acts as a shortcut through the methylation cycle helping convert homocysteine to methionine. The activity of the enzyme can be negatively influenced by stress. The Information on this enzyme related to methylation is mostly based on Dr. Amy Yasko’s clinical experience and research.
According to Dr. Yasko, a homozygous mutation of BHMT 01, BHMT 02, BHMT 04, can produce results similar to one with a CBS upregulation even if you don’t have a CBS upregulation. In her book, Autism: Pathways to Recovery, She also states that a BHMT 08 mutation may “increase MHPG levels relative to dopamine breakdown (HVA)”. This can result in attention type symptoms. It is common to see elevated glycine in someone with a homozygous BHMT 08 mutation.
What Can be Done?
There are many things which can be done which is good news. I’ll only offer a high level overview but if you’d like to treat some of these mutations nutritionally, for example, in my case C677T (MTHFR) : http://mthfr.net/mthfr-c677t-mutation-basic-protocol/2012/02/24/.
A hugely expensive, yet very promising intervention would be to consume the RNA produced by the healthy version of this gene, bypassing the defect. Long story short, RNA is a messenger molecule between the nucleus and the ribosome where the protein is produced. Ingesting the correct RNA could potentially correct for the effect if that RNA makes it intact into the cell in the correct concentrations. Dr. Amy Yasko PhD who is a pioneer in this research has just such RNA packets available. For example, again in my case C677T (MTHFR): http://www.holisticheal.com/mthfr-c677t.html.
Who Should Be Tested?
Everyone. Since the test is only $200 or so, you should see what’s going on in your genes.
