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What does the COMT Gene Mutation mean?

  3 years, 10 months ago

To learn more about COMT Gene:
Dr. Richard Deth PhD

Dr. Jill James PhD
1) http://www.ucdmc.ucdavis.ed... (2006 lectures, please scroll down for oxidative Stress Lecture as well).

2) http://www.ucdmc.ucdavis.ed... (2010 Lecture Methylation/Oxidative stress).

MTHFR and L-METHYL FOLATE… Some Basic Information By Carol Savage M.D.

If you have the MTHFR Gene Mutations C677T and or A1298C and are already taking some L-Methyl Folate [5-MTHF] and Vitamin B12 you might also consider the following:

FOOD Eat plenty of Green Vegetables and beans to get some Dihydrofolate [DHF] and Vitamin B2 [Riboflavin] and many other naturally occurring minerals and vitamins that the body needs etc.

DIHYDROFOLATE [DHF] Dihydrofolate is needed to provide the earlier FOLATE PATHWAYS [the reactions that occur prior to the MTHFR enzyme] with the kinds of folates that they need in order ... ..more

A slowed down: #MS/MTRR #BHMT #CBS SNPs
Anything causing Homocysteine to build up, back up or slow down the conversion of #Homocysteine into #Methionine .
The #MTHFR C677T mutation is NOT the only cause of elevated homocysteine. ..more

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What is ACAT Gene Mutation

  3 years, 10 months ago

ACAT Acetyl-Coenzyme A acetyltransferase AKA A bad Gut & Oxalates issues. This is Priority mutation # 2.

Although this mutation is fairly uncommon, it significantly impacts the Energy Cycle (citric acid cycle) and mitochondrial function. The influences are wide and far ranging and include bile salt production, cholesterol, fatty acids, and the processing of oxalates. Notwithstanding a partial or full defect, many have a “functional” variation due to the impact of aluminum, heavy metals, and toxins as well as other defects that impact this area such as the NOS, MTHFR, & CBS. Upon viewing the methylation community diagram, it is important to note that the energy cycle is closely connected to each sequence, yet it is intimately linked to both the waste cycle and SAM’s Corporation.

Since the energy cycle is essential for processing and converting all dietary nutrients (glucose, fats, proteins) into useable forms of energy, a breakdown anywhere down the line might trip an internal alarm. This is analogous to your car’s “low fuel” gauge. Just as any industry processes coal, gas, or oil for energy production, your body must have the essential nutrients in order to properly function. If you visualize the energy cycle as a clock, each hour represents an area in which one nutrient or substance converts into a more compatible form of energy. Depending on digestive function, diet, rate of absorption, and the presence of any genetic quirks, a problem might occur at any point within the device. This may lead to significant chemical imbalances within your body chemistry as well as mitochondrial dysfunction or disorders.

The ACAT plays a key role in creating bile salts, which is crucial for cholesterol and other membrane lipid balances. While we tend to view cholesterol and other fats as the “bad guys” in the war against disease, these compounds are critical for general health and wellbeing. Whether it’s the coating surrounding a nerve, cell, or organ, cholesterol is essential in its production. Think of your home’s electrical wiring and the thick, plastic or rubber coating normally found protecting it. An exposed wire is vulnerable and may “short out,” so that the impulse isn’t transmitted. Similarly, the body’s nervous system requires the protection afforded from a nice, thick fatty coating or fundamental connections may never be made. An exposed nerve may lead to a misfire, which is often the source behind the early symptoms found in neuroimmune disorders. This often includes signs such as tremors, muscle fasciculations, weakness, and fatigue as well as word groping and poor concentration and retention. Without cholesterol, you also cannot make several vital hormones, including, your sex hormones (estrogen & testosterone) or insulin. Therefore, low cholesterol levels are not as beneficial as one would initially think.

Finally, if a chronically ill person has had heavy aluminum or other toxic exposures along with a partially functioning ACAT, energy production is likely to stall to a near standstill. Moreover, as outlined in the energy cycle, other problems may include:
1. More B-12 depletion, which has ramifications throughout the entire system.
2. Cholesterol & fatty acid imbalances, often leading to toxic fatty acid buildup & high cholesterol.
3. Decreasing bile salts & increased taurine production as well as poor cell wall function since they all rely
on the proper breakdown of cholesterol through the ACAT.
4. Poor breakdown of fats, carbohydrates, & proteins to fuel other cells, nerves, tissue, & organs.
5. Rising oxalate levels that may cause painful urination and bladder & kidney stones.
6. Co Q-10 reduction, which is also necessary for mitochondrial function & energy.
7. Limited energy for the Waste Facility & SAM’s Corp. due to less conversion of methionine to SAMe. In
having over 400 methylation functions, SAMe is critical for the entire community.
As the energy factories of each cell, mitochondrial damage has significant implications. In fact, anything that demands more energy, including the gut and the brain, are particularly vulnerable. Significant blocks may limit the availability of bile salts; hence the digestive process is doubly burdened. This provides a valid reason for many unexplained digestive problems, while explaining poor growth & development as well as failure to thrive. Well-studied toxins such as aluminum, lead, mercury, and MSG also greatly impact this factory. This is one reason those with known mitochondrial disorders are discouraged from eating foods with pesticides, MSG, and aluminum. Ultimately, anyone with multiple risk factors is especially prone to mitochondrial dysfunction.

Monitor for oxalates, high taurine, MMA, and/or methionine levels as well as low cholesterol.
Ethanolamine and the ... ..more


What is the Folate Cycle ?

  3 years, 10 months ago

The Folate Cycle Produces organic, homegrown RNA & DNA. Converts folate into usable forms to keep HCY* in check & sends on to SAM’s for more work tags. *HCY/Homocysteine

The Folate Cycle is the “Organic Farming Region” where everything is homegrown. This Region grows “organic” work tags (methyl groups) and is instrumental in the front-line production of new RNA and DNA. Still, this plantation is a bit old fashioned, employing a chain gang (homocysteine) to help them get the work done. Though rarely considered in everyday life, RNA & DNA are essential to making you unique, as well as directing health ... ..more

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What is the Methionine Cycle ?

  3 years, 10 months ago

The Methionine Cycle is the major work tag (methyl donor) manufacturer. SAMe has over 400 functions in the community. Also serves as the main route through to liver & Waste cycle.

Methionine (SAM) Cycle AKA “SAM’s Corporation,” As SAMe has over 400 known methylation reactions, SAM’s Corporation is the chief work tag producer. It’s also where most of the action occurs since it contains the major thoroughfare to the liver (CBS & transsulfuration). While this often works to its’ advantage, it can also pose a safety risk since failure along this route may result in calamity (see Waste Facility ... ..more

Vitamin D Receptor “Determines donors”

VDR Taq tt = -/- (green, no defect) tolerates fewer methyl donors
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 ... ..more

Elevated BUN
Urine excretion/detox of metals for prolonged periods

Supports for Kidney Health:
Kidney Support Formula RNA
CBS/NOS Compounded Supplement
#Cranberry Caps (In UltiFend and NaturoMycin Spray & Caps)
#Cranberry Juice -Sweeten with Xylitol or Super Stevia
Curbita Bladder Caps (In NaturoMycin Caps)
#SAM-e (Low dose in Ultimate B, ACAT/BHMT, MethylMax, MethylMate A, and UltiFend)
#ATP -20 (In MitoForce and MTR/MTRR/SUOX)

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STEP ONE: Layering in The Foundation
Knowing your Nervous system #dominance is an integral part in establishing the treatment process.
A). Remove or limit triggers:
Processed foods contain excitotoxins, dyes, and #toxic preservatives. It is also crucial to remove obvious food #allergies . Please see Resqua pages on #excitotoxins for more information. This is simply defined and discussed in detail. 

B). Begin general support:
Provide a good foundation for your nervous system type and begin nutritional support. Though life threatening reactions would be extremely rare (and to my knowledge, unheard of), moving too quickly can result in more intense symptoms of ... ..more


What does the COMT Gene Mutation mean?

  3 years, 10 months ago

What does it mean to "spare dopamine"? As mentioned in the above COMT discussion. Not use it? Not create it?  ..more

MTHFR C677T Mutation: Basic Protocol by Dr Lynch on February 24, 2012 in C677T MTHFR Mutations
Have one or two copies of the MTHFR C677T mutation? Don’t know what to do?

After working with 100′s of individuals with this defect, I’ve developed a protocol which may help a significant number of people.
I want to make it absolutely clear that while the MTHFR C677T mutation may be common across a number of individuals, the outcome of supplementing with various nutrients can vary tremendously due to other genetic defects, dietary and lifestyle choices and environmental exposures.

Some of ... ..more

Elevated calcium relative to magnesium on a urine essential element test
Elevated calcium relative to magnesium on a red blood cell element test

Supports to help address high Calcium:
MitoForce Compounded Supplement
CoEnzyme Q10 Fatigue & Muscle Support Spray
GSH Capsules
Magnesium (Low dose in MetalAway, MTR/MTRR/SUOX and MitoForce)
Boswellia -Ayur Boswellia Serrata (In Inflammation compound-coming)
Zinc (Low dose In NaturoMycin Spray, SeroMood and PeptiMycin)
Paradex (In NaturoMycin Caps)
Don Quai - Max V
Air Power
Black Cohosh
Prevagen 5mg or less ..more

Dr. James, et. al., has found that folate trapping may occur when the MTR/MTRR is inefficient and/or there is a CBS up regulation. Since folate cannot be utilized properly under such conditions, it is not pulled through the cycle, as it should, which leads to a substantial build up. Therefore, high folate or B-12 levels may indicate a functional deficiency in that you may have enough of these critical nutrients, yet you cannot utilize them appropriately. ..more


What does a CBS Gene Mutation mean ?

  3 years, 10 months ago

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 actually 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 ... ..more

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