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MTHFR is a a
key regulatory enzyme in the metabolism of folate. It also refers to a specific
gene that plays a major role in the body's methylation process. Both the enzyme
and the gene have the same name, MTHFR. The gene's role is very complex, and
recent discoveries have been focused around the MTHFR gene polymorphisms (or
variants). These polymorphisms are often referred to as 'mutations' or
'defects' because of the problems they cause in the body.
Most often
when you hear someone talk about MTHFR, they are actually referring to one of
the two common MTHFR gene mutations that causes this MTHFR enzyme to become
imperfect and therefore much less effective.
Simply
stated,
MTHFR most often refers to a genetic mutation that inhibits the body's
ability to methylate or convert folic acid from the food we eat into
Methylfolate.
Methylfolate
is most often referred to as the 'active' or usable form of folate that our
cells require. Because the body's cells cannot actually use folic acid, it must
first go through a metabolic pathway or 4-step conversion process to become
Methylfolate before the cells can use it . It is this metabolic pathway that
the MTHFR gene defect inhibits and cause methylation deficiencies and/or
neuro-immune syndromes.
The
learnings about this gene defect have come out and taught us that there are as
many as 50+ variants of the MTHFR gene. However, only two are considered
'common' defects that today’s
MTHFR Blood Test checks for and are
the:
677 and 1298 (discovered in 1995 and 2001).
Everyone
receives one copy of the MTHFR gene from each parent. This means a person could
have any one of the following combinations as well as the issues that go with
it:
Normal /
Normal
- Normal for
the two common variants, or mutations, 677 and 1298 (no mutation is evident)
Normal /
C677T
- More
susceptible to neuro-immune syndromes, environmental damage, depression,
central nervous system issues, etc. (referred to as Heterozygous)
Normal /
A1298C -
More
susceptible to neuro-immune syndromes, environmental damage, depression,
central nervous system issues, etc. (referred to as Heterozygous)
A1298C /
A1298C -
Denoted as
1298CC - Much worse for the above problems (referred to as Homozygous)
C677T /
C677T
- Denoted as
677TT - Similar to 1298CC plus heart disease, blood clots, and more (referred
to as Homozygous)
C677T / A1298C - Susceptible to all of the above and worse for strokes, heart
disease, blood clots, etc. (referred to as Compound Heterozygous)
Heterozygous
A1298C or C677T or other symptoms of a methylation deficiency: Provide
Methylation Complete Sublingual or Methylation Pro Topical Cream twice daily and as
directed on label.
Homozygous
for 1298 or C677 or combination: Provide
Methylation Complete Sublingual OR Methylation Pro Topical Cream twice daily for 2 weeks then add
Methyl Folate Plus 1-2x’s daily (Niacinamide is an
ingredient in the Methyl Folate Plus to support mitochondria and delivery of
tetrahydrofolate).
Statement from Dr. Stewart: Many abnormalities (high folic acid in
blood serum, low or high homocysteine, MTHFR mutation / heterozygous or
homozygous) can point to a methylation deficiency. I find that many of my
patients will respond better if you ease into the methylation protocol.
Suggested use is begin with the Methylation Complete Sublingual OR Neuro-Immune
Stabilizer Cream for about 2 weeks by itself and then add the Methyl Folate
Plus if you feel it is necessary or with a homozygous result or heterozygous
compound polymorphism result.
"Putting too much in too quickly can backfire on your symptomatically."
Helpful Videos/ Audio
5 minute Video: “Methylation For Patients with Kendal Stewart, MD” click on link:
Methylation Overview For Patients by Kendal Stewart, MD from Neurobiologix on Vimeo.
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