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I found this excellent description in Amy Yasko's forum: ch3nutrigenomics.com. It was posted by one of the members on the site- raji: http://www.ch3nutrigenomics...
This is a private blog, but it is a very rich source of information about methylation, nutrigenomics and dietary supplementation

Here is a copy of the post:

"Common Terminology:

Methyl group: A methyl group is simply a single carbon atom bonded to 3 hydrogen atoms (CH3).

Methylation: Transfer of methyl groups from one chemical to another is called methylation. Essentially any chemical compound that has a methyl group as part of its chemical ... ..more

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Annonymous

What is ACAT Gene Mutation

  6 years, 7 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.

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


Summary of analogies used in methylation community: CEOs: Directs each corporation in organized steps
Supervisors: Enzymes such as MTHFRs, COMT, SHMT, and BHMT
Enzymes are proteins that are produced by living cells and regulate the body’s process to breakdown products, such as ammonia.
Employees: Chemicals, proteins, DNA, etc.
Work tags: Methyl groups (Homocysteine, SAM, Methionine) The Chain Gang: Homocysteine (HCY)
Synopsis of the Cycles
1). Power Plant = Citric Acid Cycle =
Formerly known as the Kreb’s cycle) Recognized as the mitochondrial or energy cycle
2). Garbage Dump (& Recycling) =
The urea cycle, ammonia cleanup & nitric oxide production (heart/blood vessel protection)
3). Better Health 4 Life Corp (BH4) = Communications “AT&T” & toxic waste cleanup Neurotalkers: Dopamine, Serotonin, & Norepi

4). SAM’s Corp. = Methionine Cycle =
The major producer of methyl donors and the passageway to the garbage dump (NOS) & liver via the CBS enzyme
5). Farmer Folate = Folate Cycle =
Homegrown” RNA & DNA, methyl groups and Homocysteine (HCY) regulation

The Meaning of Methylation
Methylation is truly a multi-tasking marvel that allows us to be “healthy and human.” Though this highly intricate process occurs within each cell as well as in the fluid supplying the brain and within the liver, it is responsible for the most vital undertakings throughout body chemistry. Methylation determines who we are, what we look like, and how we behave and it is central to our physical, emotional, and mental wellbeing. Without methylation, we could not survive; hence, it is the perfect pathway to focus on for understanding autoimmune ... ..more

Annonymous

What is The Citric Acid Cycle ?

  6 years, 7 months ago

The Citric Acid Cycle AKA “The Power Company” is essential for processing and converting all dietary nutrients (vitamins, minerals, fats, amino acids) into useable forms of energy just as any power industry processes coal, gas, or oil for energy production. If you visualize this cycle as a clock, each hour represents an area in which one nutrient 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 this clock. This may lead to significant metabolic (chemical processing) imbalances within ... ..more

Annonymous

What is the Folate Cycle ?

  6 years, 7 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

Annonymous

How can I support my Liver

  6 years, 7 months ago

Lab Tests indicating a need for #Liver Support:
Elevated AST (SGOT)
Elevated ALT (SGPT)
Elevated alkaline phosphatase (ALP)
Elevated lactate dehydrogenase (LDH)
Elevated billirubin
Elevated #cholesterol
Elevated triglycerides
Long term chelation with sulfur based chelating agents
High level excretion of toxic metals on fecal tests

#Supplement for Liver Health:
Organ/Liver Support Formula RNA
MTHFR A1298C+/Liver Support BH4 Compounded Supplement
Ultimate B Complex
Folazin
Cod Liver Oil -CLO
Shark Liver Oil - Norwegian Shark Liver Oil
#SAM-e
Rosemary
#Quercetin 500 Plus
 ..more

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There is little known about the A1298C MTHFR mutation. Or so it seems.
Research seems to ignore it almost completely while the C677T MTHFR mutation gets all the attention and glory.
For those who have the A1298C MTHFR mutation, this is frustrating.
Symptoms exist and doctors are saying there is no correlation between the MTHFR A1298C mutation and your symptoms – right?

I’d like to prove them wrong – at least for the symptoms which do correlate with the A1298C MTHFR mutation.

The MTHFR A1298C mutation may affect you if you are either:
--Homozygous A1298C MTHFR mutation
--Compound heterozgous A1298C + C677T ... ..more

Annonymous

What is the Methionine Cycle ?

  6 years, 7 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

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)
 ..more


It produces a defective MTHFR enzyme of different varieties i.e. it functions less than optimally, such as performing at only 40% of its capacity, or 70% of its capacity. It can mean you won’t break down toxins or heavy metals well i.e. you could find yourself with high iron, or high copper, or high mercury….etc. High copper can also cause low iron.
The defective enzyme doesn’t break down folate vitamins properly (of which folic acid is the precursor to), which can cause high homocysteine, which can increase your risk of coronary heart disease (arteriosclerotic vascular ... ..more

Annonymous

How does Methylation influence mood ?

  6 years, 7 months ago


It is important to understand the basics of methylation, and although a more detailed study of #methylation chemistry may be interesting, for our needs, it is not really necessary to study it here as it will only serve to confuse matters, so only the most important aspects will be considered.

Put simply, the methylation process makes #neurotransmitters (mood building blocks), and the issue of a person being an under or over methylator can be confusing, because there is contradiction between the various sources of information on the methylation process. For our purposes, we'll say that an over methylator is ... ..more

Elevated AST (SGOT)
Elevated ALT (SGPT)
Elevated alkaline phosphatase (ALP)
Elevated lactate dehydrogenase (LDH)
Elevated #billirubin
Elevated #cholesterol
Elevated triglycerides
Long term chelation with #sulfur based chelating agents
High level excretion of toxic #metals on #fecal tests

b) Supports for Liver Health:
Organ/Liver Support Formula RNA
#MTHFR A1298C+/Liver Support BH4 Compounded Supplement
Ultimate B Complex
Folazin
Cod Liver Oil -CLO
Shark Liver Oil - Norwegian Shark Liver Oil
#SAM-e (Low dose in Ultimate B, ACAT/BHMT, MethylMax, MethylMate, and UltiFend)
Rosemary (In NaturoMycin Spray, MethylMax, VDR FOK, UltiFend and Vita D-Light Spray)
#Quercetin 500 Plus (In UltiFend and ... ..more

Annonymous

What does a CBS Gene Mutation mean ?

  6 years, 7 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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A chemical made in the BH4 cycle, which is used to produce dopamine and serotonin, neurotransmitters strategic in regulating mood, sleep, attention and focus, reward seeking behavior, addiction, and sense of wellbeing. BH4 is also critical in the urea cycle (waste facility) for cleaning up ammonia and making nitric oxide. A shortage of this important chemical has widespread repercussions.

Tetrahydrobiopterin BH4 Cycle produces the BH4 used for making neuro-talkers (dopamine, epinephrine, nor-epi, serotonin, & melatonin). It cleans up toxic ammonia in The Waste Cycle & makes Nitric oxide to protect the heart & brain.

Though controversy exists regarding this cycle’s function, Dr. Yasko’s theory indicates that The Big Motherflipper (MTHFR A1298C) may drive this cycle in the reverse direction and several independent studies support this finding. This leads to a chemical exchange among BH2 to BH4, a multi-purpose product that is used in both the Waste Facility (urea cycle) and BH4 Industry. Within the Better Health 4 Life Industry, BH4 produces chemicals known as neurotransmitters, or neurotalkers (NTs), including dopamine, serotonin, melatonin, norepinephrine, and epinephrine. NTs are central for the communication between nerves and cells as well as stabilizing the crisis response, mood, and sleep cycles. Chronically low BH4 levels increase the risk for ADD/ADHD, Bipolar Disorder, OCD, insomnia, depression, anxiety, and many other quality of life issues. Think of this company as AT&T with a philanthropic twist since it donates BH4 to the Waste Facility for environmental clean up as well as supporting the community in health & wellbeing.

The Waste Facility uses BH4 to clean up toxic ammonia and generates nitric oxide, an element that keeps blood vessels open and free of plaque. Yet if BH4 is scarce, it cannot clean up waste or deliver vital nutrients to the Power Plant (fumarate) so that noxious chemicals back up into SAM’s Corporation. Given the fact that it takes 2 grains of BH4 to clean up 1 granule of ammonia, as well as 2 of BH4 to create just 1 bit of nitric oxide, its easy to see how problems might arise. This underscores the BH4 Industry’s role throughout the community since unlike an actual factory; it isn’t permitted to shut down for repairs or maintenance.

While there are many factors that may impact this cycle, several are listed below:

1. A ... ..more

Annonymous

What is the AHCY Mutation?

  6 years, 7 months ago

The AHCY (Adenosylhomocysteine Hydrolase) Mutation activates Homocysteine.
This defect is a prime example of just how challenging nutrigenomics medicine is, particularly when trying to sort through methylation’s domino effect. This zone activates SAM into Homocysteine, which is then utilized within the system or eliminated through the CBS enzyme. When AHCY defects are present, one could have the MTHFR C677T enzyme mutation yet still have normal homocysteine levels. And, if a coexisting CBS upregulation is present, homocysteine levels may be even lower, despite having complete C677T and/or BHMT defects. Furthermore, when such AHCY defects are present, there is less ... ..more

Annonymous

How can I support my Kidney

  6 years, 7 months ago

Lab Tests indicating a need for Kidney Support:
Elevated BUN
Urine excretion/ #detox of #metals for prolonged periods

#Supplements for Kidney Health:
Kidney Support Formula RNA
CBS/NOS Compounded Supplement
#Cranberry Caps
Cranberry Juice -Sweeten with #Xylitol or Super Stevia
Curbita Bladder Caps
#SAM-e
#ATP-20

#Methylation ..more

Annonymous

What is a CBS C699T Gene Mutation ?

  6 years, 7 months ago

CBS C699T cystathionine beta synthase AKA The Hole in the Bucket. This Priority # 3 Mutation
Tip! It is crucial to address any gut issues before you thoroughly address the CBS defect. Since chronic gut issues lead to higher bacterial loads, thus leading to higher ammonia production as well as leaky gut (reducing nutrient absorption and increased risk for food sensitivity) this area is paramount. You can begin to address the CBS prior to fully addressing gut issues though they should be done in concert. Since the CBS is one of the most important issues to address, I’ve decided to ... ..more