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What is MTHFR A1298C Gene Mutation ?

  3 years, 6 months ago

By Helen Janneson Bense

A1298C single nucleotide polymorphism (SNP) affects the enzyme known as 5,10 MethyleneTetraHydroFolate Reductase (MTHFR). This polymorphism involves a down regulation of the MTHFR enzyme, responsible for the backwards reaction of the folate cycle, where 5-methylfolate (5MTHF) is converted into tetrahydrofolate (THF). This reaction is most important for the production of BH4 – tetrahydrobiopterin. Each turn of the folate cycle and conversion of 5MTHF to THF produces 1 molecule of BH4. In heterozygous and homozygous states, enzyme activity will be compromised by
approximately 30% and 70% respectively.

Functions of BH4
Cofactor for all three isotypes of nitric ... ..more

I found this excellent description in Amy Yasko's forum: 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

COMT, GAD, MAOA/B and addressing methylation too soon can definitely cause neuro-psych issues, but it all comes back to methyl pooling. SNPs in these genes can also contribute: ACE, DAO, MTHFR (e.g., A1298C). Homozygous or 'AA' results for COMT V158M is particularly associated with anxiety & startle response. Quite a few SNPs & quite a few medical conditions can contribute to anxiety, of course (e.g., gut health & bacteria resulting in toxin exposure).

For brain fog / concentration issues, follow up on SNPs affecting ammonia (such as NOS gene, etc.) & BH4 levels (DHPR gene, etc.), also.

With anxiety as a chief ... ..more


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

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


What is The Citric Acid Cycle ?

  3 years, 9 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


What is the Folate Cycle ?

  3 years, 9 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


What is the Urea Cycle ?

  3 years, 9 months ago

The Urea Cycle filters & processes toxic waste. Makes nitric oxide to limit free radical injury & maintains open & clean blood vessels to protect the heart & brain.
#NitricOxide #UreaCycle #Methylation ..more


What is the Methionine Cycle ?

  3 years, 9 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

These are the ultimate “bad guys” that roam from place to place stealing every cell’s positive energy and leaving them for dead. How are these criminals produced? Though there are many contributing factors, the Urea Cycle
( waste facility ) is by far, the largest free radical and oxidant producer in the community. Remember the waste facility aka #urea cycle is responsible for cleaning up most of the toxic waste generated within the community. Think of this cycle as your local garbage dump replete with trucks transporting recyclables and trash via the liver’s main highway ( #CBS ). In the 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)

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What is a Lipid Donor ?

  3 years, 9 months ago

Lipid Donors: Limit for CBS + & NOS +

Foods: High seafood/fish diet
Immune Factors
Any transdermal creams
Lipoceutical #EDTA
Lipoceutical #glutathione
EFA’s: Omega 3’s or #DHA
ALA Idebenone

The goal is to be mindful of accumulating methyl or sulfur donors rather than attempting to limit all of them. Whenever we try to remove everything “bad” in one category, we create imbalances in other categories. The key is balance. For instance, if you love broccoli & garlic yet have the SUOX & CBS defects, just limit the others on the list.
#LipidDonor #Supplements

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

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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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#CBS #NOS Gene Mutation
• Flapping or hand tremors
• Dark circles under eyes
• Disorientation, and brain fog
• Hyperactive reflexes
• NMDA receptor activation, leading to glutamate excitotoxicity
• Tremor of the hands
• Paranoia, panic attacks
• Memory loss
• Headaches
• Irritability
• Hyperventilation (often associated with decreased Carbon dioxide/CO2)
• Central nervous system toxicity
• Dementia
• Seizures

How to reduce Ammonia levels:
The following examples assist in balancing this toxic waste
• Yucca with meals/protein snacks
• Charcoal flush (only 1-2 x week) after last meal of the day (typically 9-10PM)
• CBS/NOS Caps
• MTHFR A1298C Caps (L-Biopterrin increases BH4 levels and the milk thistle also provides ammonia ... ..more

Evaluating the nervous system’s style or “dominance” is a key factor in the initial process i.e dopamine or seratonin dominance. This will allow for a more targeted regimen, based on your individual needs. This is why consulting with your Doctor is pivotal.

1. Slowly adding basic supplements & support: general minerals, vitamin B’s & B-12, digestive enzymes, probiotics, antioxidants, essential fatty acids, etc.

2. Gut Health is critical. Since most chronically ill adults & children have at least 1-2 (if not 3-4!) enzyme defects that affect the gut and digestion, the gut is always a factor. Gut bugs tend to ... ..more