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MTHFR - Information, Videos,
Homeopathy, Lab
Testing and More!
Homeopathic remedies can support healing and detoxification for those with
MTHFR genetic mutations of both A1298C and C677T plus other
SNP's and mutations. Homeopathy supports the detoxification pathways, help reduce yeast,
reduces dysbiotic gut bacteria, reduces the heavy metal burden in the
body for gut health and recovery!
Contact us to learn more about how homeopathy will
support optimal detoxification and holistic health!
The Human Genome Project was finished in 2003 and it was
discovered that an important gene called
methylenetetrahydrofolate reductase (MTHFR)
which supports one's health, well-being and detoxification was defective in a
fairly large percentage of the population. About 45%
of Caucasians, 70% of Hispanics and about 30% of southern Italians have
a genetic defect.
The MTHFR gene produces
the MTHFR enzyme. This
enzyme is responsible for the circulating form of
folate. Folate is very important in
homocysteine regulation. The MTHFR enzyme metabolizes folic
acid into 5-MTHF, which is needed to combine with homocysteine to break it
down and to facilitate methylation (detoxification) processes in the body.
The MTHFR enzyme is essential for the
body to function properly and affects more than 20 different processes. Having a
MTHFR mutation means that the enzyme that converts folic acid into it’s
activated form (5-MTHF) acts in a less than normal capacity.
The more
genetic mutations one has, the less the MTHFR enzyme acts in a complex process
that produces glutathione at the end of the cycle. Glutathione is the body's number one
antioxidant. A
defective
MTHFR enzyme in the different varieties means that detoxification
function is less than optimal. It can be performing 20% reduced capacity, or
loose as much 80% of its
capacity in some cases. It can mean that you just don’t break down toxins well.
Remember that
MTHFR gene mutations can cause absolutely no symptoms at all.It
is the environment determines whether or not genes turn "on" or "off".
Everyone is unique and different. Many other genetic and especially
environmental factors well as lifestyle, stress and a person's mental/emotional landscape will
powerfully influence health and gene expression.
We get two copies of most of the genes
that we are born with -
one from our mother and one from our father. The MTHFR gene
mutation involves two of these MTHFR genes the A1298C
and C677T.
Their numbers refer to their location on the MTHFR gene. These are also written as just
677 and 1298. There are over 50 known MTHFR variants of this important gene which
can be passed down
by one, or both or your parents.The most common ones that
doctors will look for is C677T, A1298C, P39P and R594Q. Some mutations are more
serious than others and warrant nutritional and homeopathic interventions.
If you are heterozygous that means you
have one affected gene and one normal gene. The MTHFR enzyme will run at about
30% to 70% efficiency compared to a normal MTHFR enzyme. If you are
homozygous, then the enzyme efficiency drops down to 7% to 10% of normal
efficiency,
which of makes a huge difference.
Possible
Combinations of the 2 key genes, the A1298C
and C677T:
Normal/Normal for both C677T and A1298C
Heterozygous A1298C / Normal C677T: this
means one parent passed down for one A1298C mutation
Homozygous A1298C / Normal C677T: this
means both parents passed down for two A1298C mutations
Heterozygous C677T / Normal A1298C: this means one parent
passed down for one C677T mutation
Homozygous C677T / Normal A1298C:
this means both parents passed down for two C677T mutations
Heterozygous C677T / Homozygous
A1298C: this means one parent passed down the C677T mutation;
bothparents passed down for two A1298C
Homozygous C677T / Heterozygous
A1298C: this means both parents passed down the C677T mutation;
one parent passed down for two A1298C
Heterozygous C677T / Heterozygous
A1298C: this is called Compound Heterozygous: - this means one parent passed
C677T7;
one passed A1298C
Homozygous C677T / Homozygous
A1298C: this is called Compound Homozygous - this means you have two
C677T, two A1298C.
Triple heterozygous mutations (most rare): would be
some other combination, like one C677T, one A1298C, and a P39P or
R594Q, for example.
As a general rule, the A1298C mutation is associated with a group of
disorders that I refer to as Neuro-Immune Syndromes - See more at: https://www.fitzeefoods.com/tag/mthfr-treatment/#sthash.sBr8loP4.dpuf
As a general rule, the A1298C mutation is associated with a group of
disorders that I refer to as Neuro-Immune Syndromes - See more at: https://www.fitzeefoods.com/tag/mthfr-treatment/#sthash.sBr8loP4.dpuf
This
order goes from most severe to least severe, in terms of methylation defect. There are
also other genetic mutations that can amplify or diminish the significance of
the MTHFR mutations:
Two copies C677T (C677T Homozygous)
One copy of C677T &
one copy of A1298C (Compound Heterozygous)
If you plan to
become pregnant, we strongly recommend genetic testing for both parents.
Women with a history of infertility, miscarriage(s) or still birth
or Down's syndrome should always be tested
for the MTHFR by their medical doctor. This is simple
blood test that is normally covered by insurance. A blood sample can
be taken at the same time as other blood draw.
Also, if
you
plan to become pregnant, we also strongly recommend that you do a
Vitamin D 25 hydroxy blood test for both
parents. It is the current recommendation of the researchers at
the Vitamin D council that both parents each
supplement Vitamin D at 5,000 IU's per day, for a full year before becoming
pregnant. Read more about Vitamin D.
A pregnant woman not already tested for MTHFR should also
test. Ask for this blood test from your doctor. Some doctors are not
yet trained or familiar with the MTHFR testing and may not advise you to get
it, but insist. You want to know this information so that you can
correctly supplement during your pregnancy!
If you are
pregnant, you need to be supplementing folic acid. Most
doctors will recommend about 800 mcg of folic acid per day. However,
you must be supplementing the CORRECT FORM of methylfolate, not
"folic acid" which is a synthetic version if you have an MTHFR gene
mutation.
Specifically, you need L-methylfolate, which is a form
your body can use because with MTHFR, you have problems converting folic acid
to a usable form for fetal development.
Folate is essential to healthy DNA replication, which is
required in healthy baby making. L-methylfolate supplements are affordable and easy
to get online supplements without a prescription.
Depending on which genetic mutations are shown in your
MTHFR testing, especially for the mother, supplementing the correct forms
are essential for a healthy pregnancy and baby!
In women, pregnancy complications and an increase
risk of fetal open neuro tube defects have been reported for those
with C677T mutations.
You will need to take a prenatal supplement that contains
L-methylfolate - NOT folic acid. L-methylfolate is a food based vitamin and thus not
patentable.
You can only know for certain if
you have this MTHFR mutation with blood or
saliva testing, which is done only once in a lifetime.
Labs
that test for MTHFR with blood or saliva look at your unique DNA sequence to determine if one or
both copies of your genes have a mutation at a specific location in a specific
gene.
These labs tests are available
directly as listed below:
1.
23 and Me Test: https://www.23andme.com/
Note: Your data collected is not confidential with this
lab
Sample: Saliva and Cheek
Swab (for infants and young children)
NO Blood draw needed
Turnaround time: 6 to 8
weeks but may take longer due to volume
Price:
$199
Tests for MTHFR A1298C
and MTHFR C677T and various other MTHFR snps PLUS numerous other genetic
polymorphisms
International
availability for many countries
Note:23andMe.com saves close to
a million pieces of genetic data from your DNA. The test is easy, and
there is no doctor needed. Go to 23andMe.com,
order a kit, spit in a tube, and they run your DNA through their lab. This
company has a database of over 400,000 people and provides comprehensives
ancestry reports. FDA Current Ruling: Unfortunately, because of recent concerns from
the FDA, 23andMe.com is not
currently able to provide health-related related data. However, they
still provides you full access to your raw data. This means that when
you order your kit, you will be able to use Genetic Genie or other
for methylation and detox profiles.
International availability. USA customers have prepaid
return shipping label. Overseas customers must pay for self for return
shipping.
3.Ancestry Data -
www.ancestry.com
800-401-3193 Note: They store your DNA test results
and DNA sample without your name or other common identifying information. You
own your DNA data. At any time, you can choose to download raw DNA data, have us
delete your DNA test results as described in the AncestryDNA Privacy Statement,
or have them destroy it.
Sample: Saliva
NO Blood draw needed
Turnaround time: 6 to 8 weeks
Price: $99
International availability
4. Molecular Testing Labs - MTHFR
Testmoleculartestinglabs.com/Phone: (360) 693-8850 Note: Data is not sold or shared with any
third parties
Sample: Cheek Swab
NO Blood draw needed
Turnaround time: 3 to 5 days
Price: $150
Tests for MTHFR A1298C and MTHFR C677T only
International availability
5. MTHFR.com -
www.mthfrdoctors.com/ Note: Data is not sold or shared with any third parties.
Sample: Cheek Swab
NO Blood draw needed
Turnaround time: 3 to 5 days
Price: $149.99
Tests for MTHFR A1298C and MTHFR C677T only and COMT only
International availability
No testing in New York State or Maryland state, USA
Genetic Genie App:Free each report
is free - donations are requested
Once you get the analysis from 23andMe, you can UPLOAD it to
https://geneticgenie.org/ for a free
(donations are accepted). This website automates a
methylation gene analysis just by reading your
23andMe raw data. Simply click on the
Methylation Analysis
tab, upload your www.23andMe.com data, and you’ll receive your results.
The Livewello Gene App: each report costs $19.95 Once you
get the analysis from 23andMe, you can UPLOAD it to
www.livewello.com to free
for a detailed report. The Livewello Gene App is a Variance Report
Software that will run your 23andMe Genome, and generates your Phenotype
for an unlimited number of Single Nucleotide Polymorphisms (SNPs).
Sterling's App: each report costs $20.00 https://www.mthfrsupport.com/reports-consults/order-reports This helps you better understand your
23andMe results. They offer an
extensive chart for your SNPs (Single-nucleotide polymorphism) that you and
your health practitioner can further investigate to setup an
individual-based treatment plan. These
reports are "the most comprehensive and accurate available", containing
sections on eye health, detox, tongue tie/cleft palate,
methylation,
allergy/mold, IgE, IgA, IgG, clotting disorders, thyroid, celiacs/gluten
intolerance, mitochondrial function and sulfonotransferase genes.
Homeopathy is a 200 year old, scientifically proven medical system that
provides a comprehensive method of detoxifying the body, including
heavy metals, strengthen organ functions both gently and safely!
Homeopathy will improve the global
detoxification process and support this process in the body.
Stress and Lifestyle:Chronic emotional stressors
and a high stress lifestyle are a chronic, damaging energetic influence to those
with MTHFR mutations in particular.
Classical homeopathy is one of the most important modalities (if not
the most important!) in treating MTHFR and reducing toxin load.
Aluminum Toxicity: Metal detoxification, especially of
aluminum, can help address
dysfunctions associated with MTHFR A1298C and can help
many other biochemical abnormalities as well. Aluminum toxicity can
slow your ability to fight infection. Many autoimmune diseases have
connections to aluminum, including Alzheimer's.
Bacterial Infections: Addressing the gut and treating
chronic bacterial infections including
strep or
staph infectionsis also critically important. ThePANDAS
diagnosis
which correlates to chronic strep infectionsis strongly correlated to the MTHFR gene mutations, as are hyperthyroid
and hypothyroid disorders.
Dental Fillings with Mercury:
Avoiding
getting any mercury fillings!Remove any mercury fillings you currently have safely, using the
safe "Huggins Protocol" or a mercury free, holistic dentist.
Diet: Diet is very important! Eat
organic, whole foods whenever possible.A healthy, organic diet
included foods that contain the active
and natural form of folate
(Vitamin B9).
These are the some of the top foods
that contain the natural form of folate (Vitamin B9):
Yeast extract spread (marmite)
Liver
Dried herbs like spearmint, rosemary, basil,
chervil, coriander, marjoram, thyme, bay leaf and dried parsley.
Other foods include sunflower seeds, flax seeds,
dry roasted soybeans (edamame), peanuts
Dark leafy greens like kale, spinach, turnip greens,
collard greens
Avocado, asparagus bean sprouts (soybean and pea)
Beans like pinto, garbanzo, mung
Some people do well on a diet such as Paleo
or the GAPS diet.
Environmental Toxins:
Limit your exposure to
environmental toxins,
chemicals and pesticides. Remove your shoes in your
home to keep your home more protected.
Filtered Water: always drink filtered water
to remove as many toxins as possible.
Gut Health:
Repairing the digestive system and optimizing the flora
with homeopathic
care as well as probiotics should be the
first step in correcting methylation
deficiency, reducing gut inflammation, dysbiotic bacteria, and yeast
(candida).
This is because of the
toxins it releases that inhibiting proper methylation. Someone who is
chronically constipated will have reduced detoxification pathway
until this issue is corrected.
Certain
supplements can be helpful, but can be
a bit complicated and may require the support of a
skilled
homeopath or health care professional with
experience in this area. You should have theMTHFR genetic testing done in order
to know what to supplement properly.
P-5-P: This is another good B-vitamin is the
methyl version of B6.
Synthetic Folic Acid Dangers:
Some people with MTHFR will
have high folic acid
when lab tested. Folic acid is a synthetic form of folate, Vitamin B9.
To
learn more, Watch
the 2 videos below about folic acid. Folic acid accumulates
in the body when there is a
defect in the MTHFR gene that
prevents the body from using it. It goes high and is unused.
One solution to reducing folic acid levels is to
avoid
all supplements with folic acid in them. Also avoid processed
and white flour based foods with folic acid. This is especially important if you
are homozygous - having one copy of the same defective gene from
both parents.
Methylcobalamin
(methyl B12): With the MTHFR mutations,
B12 might also be
high, so those people with this mutation need to avoid the
synthetic supplemental version of B12 called cyanocobalamin.
Instead, they need take a more useable form called
methylcobalamin
(methyl B12). However, because the methyl B12 will be
used by your body in the detoxification process, you will need to
start low and go slowly - to
avoid any strong detox side effects like fatigue or achiness such as
in a Herxheimer's reaction.
This often requires the support of a skilled
homeopath or health care professional with experience in this area.
Homeopathic remedies
offer a safe and natural alternative to dramatically improve your
detoxification pathways.
Homeopathy is a holistic approach that allows body to heal, mind and body to various stress whether
emotional, spiritual, physical or environmental.
Although mutations can occur at any time during our
lifetime, it is more likely that we are born with these mutations and will
have them throughout our life. These mutations are
inherited and passed down to us from previous generations, from our parents
and grandparents and may be passed to future generations - our children.
This may provide an explanation as to why certain traits or diseases "run in
the family".
It is important to understand that having a gene with a mutation does not mean that the gene is
nonfunctioning. It means that it is working with an
altered state of efficiency.
Sometimes this
means that it is working at a decreased level, but it could also
mean that it is working at a higher than normal efficiency OR that
the gene is lacking regulatory mechanisms normally involved in its
expression.
People with MTHFR
also have a reduced ability to eliminate toxins and heavy metals.
High levels
levels mercury, copper, aluminum or high other heavy metals in the
body can result from poor methylation from the MTHFR mutations.
This is the phenomenon of shifting gene
expressions. Human genes are capable of shifting expression in
as little as 24 hours.
You are not simply the result of your
genes....there is no genetic determinism.
Your
environment, which includes the thoughts you think, determines
what genes you will express.
The
genes we receive are only a "blueprint "- not the final outcome.
Homeopathy is an energy medicine that influences
genetic expression by influencing the mental, physical and emotional
environment of a person.
The word epigenetic
literally means “in addition
to changes in genetic sequence.”The term has evolved to include any process that alters gene
activity without changing the DNA sequence, and leads to
modifications that can be transmitted to daughter cells (although
experiments show that some epigenetic changes can be reversed).
Researchers have
demonstrated that certain genes can be over OR under expressed with certain
disease processes.
Studies have found that epigenetic effects occur not just
in the womb, but over the full course of a human life span.
By understanding of
how these genes are regulated and what is influencing them, including mental
and emotions stresses, we are able
to influence their expression with homeopathic
care.
ACE - causes higher levels of Angiogenesis
Converting Enzyme - this released in response to adrenals to stress andn
causes constriction to blood flow in the gut.
COMT - Catechol-O-Methly-Transferase
- keep gene in breaking down hormones, adrenaline,
epinephrine and
norepinephrine that cause bacteria in the gut to grow.
GAD - Glutamic Acid Decarboxylase - does
not allow you to break down glutamate easily and causes inflammation
in the nervous system and causes a stress response.
MTHFR - MTHFR A1298, C677,
MTR, MTRR, MTHFS, etc. effects how we process folate for energy and the
methylation cycle.
Homocysteine is an inflammatory
marker in blood tests often elevated with C677T mutation.
In women, pregnancy complications and an increase
risk of fetal open neuro tube defects have been reported.
The A1298C
mutation is relatively common but it is NOT associated with elevated homocysteine levels like
the C677T mutation.
Gene combos for the A1298C mutation are:
A homozygous gene for A1298C (2 copies, one from each parent) results in about a
40% reduction in methylation from normal activity.
A heterozygous gene for A1298C (1
copies, from one parent) results in about a
20% reduction in methylation from normal activity.
The A1298C mutation may cause a decrease in neurotransmitters or catecholamines including serotonin, melatonin,
dopamine, norepinephrine, and epinephrine.
The A1298C mutation is also a cofactor in
the production of nitric oxide.
The ethnic groups with the
highest populations of C677T gene variants are Italian, Mexican and Chinese
populations.
About 5% of Caucasians and 1.4% of
African-Americans are C677T homozygous (2 copies of this gene) and are likely to have elevated serum homocysteine levels.
A homozygous gene for
C677T (2 copies, one from each parent) results in about a
40% reduction in methylation from normal activity.
A heterozygous gene for
C677T (1 copies, from one parent) results in about a
20% reduction in methylation from normal activity.
The C677T mutation
can cause elevated homocysteine levels in
individuals with insufficient folate, particularly when there are
two gene mutations (one from each parent) present. One function of the MTHFR enzyme 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.
|High blood levels of homocysteine are also a risk factor for
cerebrovascular disease, cerebral vein thrombosis, coronary artery
disease, myocardial infarction and venous thrombosis.
MTHFR C677T can also lead to high homocysteine.
You can ask your doctor to test for blood homocysteine levels. If you have high
levels of homocysteine, it may be related to your MTHFR C677T mutation,
although it does not necessarily mean that they will have high homocysteine levels.
High homocysteine levels cannot rely only
on
genetic testing but also need to take into consideration
clinical findings such as serum homocysteine levels.
The levels of
homocysteine in the serum are influenced by both genetic and
environmental factors.
The C677T variation results in the
MTHFR enzyme being about 20%
less efficient in metabolizing homocysteine, thus increasing
serum levels, especially when plasma folate levels are at the lower
end of normal.
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 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 is caused by
one or more SNPs. There are 3 SNPs that can cause upregulation of the CBS
enzyme. The worst SNP is called the CBS
C699T SNP and Dr. Yasko says this may increase the activity of the
CBS enzyme by ten times.
The
NOS mutation can
exacerbate ammonia issues. Addressing
CBS can help lower
excessive levels of taurine and help detoxify ammonia.
It is recommended that one
supports their CBS enzyme for at least 6 weeks before starting methylation
supplements. If you try to take nutrients to support their methylation
cycle before addressing the CBS upregulation, all the nutrients basically
lead to nowhere. Instead of generating glutathione, the supplements may
deplete the rest of the cycle.
Yucca Root and
Charcoal or Magnesium flushes can help address high ammonia levels.
High doses of
L-Ornithine may be effective as well, according to medical studies.
The CBS mutation not only
leads to excess taurine, but can also lead to excess sulfur groups.
For this reason, it may be a
good idea to limit sulfur intake for awhile. Excess sulfur intake can trigger a stress
response or chronic stress. Sulfur is normally bound to amino acids, but
the CBS upregulation can instead release the sulfur groups to sulfites in
the body.
There are many
things one may need to avoid with a CBS upregulation for awhile. Some of the items
include garlic, broccoli, eggs, onions, legumes, meat, Epsom salt baths,
alpha lipoic acid, glutathione, chelating agents such as
DMPS, NAC, Milk
Thistle, various supplements and more.
Look out for other
sources for foods and supplements that are high in sulfur.
Supplementing with
molybdenum may help as excess sulfites deplete it.
Manganese is also
important in ammonia detoxification.
MTRR Snp's (Methionine synthase
reductase) snp's 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.
A homozygous mutation of
MTR A2756G (2 copies) is relatively rare (<1%).
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.
MAO-A (Monoamine oxidase A)
is a critical enzyme involved in breaking down important neurotransmitters
such as serotonin, norepinephrine, and dopamine.
Males only have one allele
since the gene is inherited through from their mother since it is located on
the X chromosome.
Only females can be heterozygous
(+/-) for this mutation.
When a (+/+) MAO-A mutation
is combined
with a (+/+) or (+/-) COMT V158M mutation, the person may be more prone to
develop Obsessive Compulsive Disorder (OCD), mood swings, aggressive
and/or violent behavior, and personality disorders.
Chronic infection can
deplete tryptophan stores. This can be tested with an organic acid
test (OAT) and urine amino acid tests (UAA) according to
Dr.
Amy Yasko. This test may indicate high levels of 5HIAA (5-hydroxy indole
acetic acid).
COMT (catechol-O-methyltransferase)
helps break down certain neurotransmitters and catecholamines including dopamine, epinephrine,
and norepinephrine.
Catechol-O-methyltransferase
is important to the areas of the pre-frontal cortex.
This area of the brain is
involved with personality, inhibition of behaviors, short-term memory,
planning, abstract thinking, and emotion.
COMT is also involved with
metabolizing estrogens.
COMT (-/-) individuals can
usually break down these neurotransmitters efficiently, but COMT (+/+)
individuals may have trouble breaking these chemicals down from impaired
function of the enzyme.
With a COMT+ status, people may
have trouble with methyl donors.
This can lead to irritability,
hyperactivity, or abnormal behavior. They also may be more sensitive to
pain.
Low or low normal vitamin D values are often seen
in those with chronic illness and 98% of the general American population are
deficient in Vitamin D.
We have a receptor for Vitamin D in every cell of our
body. The VDR (Vitamin D Receptor) encodes the nuclear hormone
receptor for Vitamin D3. VDR gene polymorphisms
represent strong possibilities for different diseases like prostate cancer,
urolithiasis, inflammatory bowel disease and osteoporosis
Low or low normal vitamin D
values are often seen in those with chronic illness and even the general
population.
Low vitamin D is
related to many neurological and immunological conditions.
Vitamin D stimulates enzymes that
create dopamine.
VDR (Vitamin D Receptor)
encodes the nuclear hormone receptor for vitamin D3.
VDR Fok has been associated
with blood sugar issues and poor pancreatic activity.
With COMT V158M + and a
VDR
Taq + status, the body may have further trouble tolerating methyl donors.
VDR Taq (-/-) individuals may
already have higher levels of dopamine, and combinations of variations
COMT and VDR Taq can lead to a wide range of dopamine levels.
VDR Taq (+/+) Those that are VDR
Taq (+/+) and COMT (-/-) may have lowest dopamine levels.
VDR Taq [+/+] interferes
with the production of Dopamine, but [+/-] may or may not be an issues
unless the person also has the COMT mutations. VDR taq [+/+] also
likely weakens the person's immune system by interfering with initiation of
transcription of genes involved in the activity and function of white blood
cells. But it can also be that one copy of VDR Bsm and just one copy
of VDR Taq might just cancel one another out.
If
a person has the VDR Bsm [+/+] then they will likely convert Vitamin D3 into
the active form Vitamin D 1,25 very quickly. The more Vitamin D 1,25
available the faster the Cystathionine Beta Synthase [CBS] enzyme
gene gets transcribed. As a result of this situation more copies of the CBS
enzyme are made and because there are more copies of the enzyme the
“Transsulfuration Pathway” will be sped up, and that would drain
Homocysteine more quickly and the person’s Homocysteine level would be on
the low side. Also, the “Transsulfuration Pathway” produces some sulfites
and ammonia that would have to be eliminated by the usage of
Tetrahydrobiopterin [BH4]. Using up the available BH4 will disturb a number
of other biochemical pathways.
Homozygous VDR Bsm [+/+] and any number of CBS
SNPs it might be important to check to be sure not to take in too much Vitamin D
because you "think" you are low in D, because your Vitamin D2 and D3
levels appear to be low, when all
along your body is actually making a lot of the active form called D 1,25.
Those individuals with VDR Bsm [+/+] should ask
their doctor to order their
D 1,25 level.
VDR Taq and VDR Bsm what does it mean when both are
heterozygous [+/-]? The labels are just abbreviations related to the
restriction enzymes used to identify the mutations. Bsm = Bacillus
stearothermophilus and Taq = Thermus aquaticus. If a person has the
VDR Bsm [+/+] then they will likely convert Vitamin D3 into the active
form Vitamin D 1,25 very quickly. If you only have one copy it may or
may not speed this process up a little.
Also eating a little less meat will reduce the
production of Ammonia due to the digestion of the proteins in the meat. That
too will help to take the pressure off the using up of the available
Tetrahydrobiopterin [BH4].
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.
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 states that a BHMT 08 mutation may "increase MHPG levels relative to
dopamine breakdown (HVA)". This can result in attention type
symptoms as in ADHD.
It is common to see elevated glycine in someone with a
homozygous BHMT 08 mutation.
ACE - causes higher levels of Angiogenesis
Converting Enzyme - this released in response to adrenals to stress andn
causes constriction to blood flow in the gut.
COMT - Catechol-O-Methly-Transferase
- keep gene in breaking down hormones, adrenaline,
epinephrine and
norepinephrine that cause bacteria in the gut to grow.
GAD - Glutamic Acid Decarboxylase - does
not allow you to break down glutamate easily and causes inflammation
in the nervous system and causes a stress response.
MTHFR - MTHFR A1298, C677,
MTR, MTRR, MTHFS, etc. effects how we process folate for energy and the
methylation cycle.
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