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Annonymous

What is MTHFR A1298C Gene Mutation ?

  3 years, 11 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: 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


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 Urea Cycle ?

  4 years, 3 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

Annonymous

What is the Methionine Cycle ?

  4 years, 3 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

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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

Annonymous

What are Neurotransmitters

  4 years, 3 months ago

Perhaps the best way to think of neurotransmitters is with an automobile example. Most automobiles in the United States are made to cruise at 60-70 miles per hour, perfect for interstate highways and that summer vacation. If we place that same automobile on a racetrack and drive day-after-day at 130 mph, two things would happen:
1). Parts would fail and
2). We would run the engine so hot that we’d likely evaporate or burnout the oil.
In fact, neurotransmitters such as serotonin act as the brain’s “oil”.

Comparable to a normal automobile on a race track, when we ... ..more

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Annonymous

What does a CBS Gene Mutation mean ?

  4 years, 3 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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Annonymous

What is Ammonia ?

  4 years, 3 months ago

#Ammonia is a product of protein digestion and the #urea cycle is required for the body to excrete ammonia. In patients with partial enzyme deficiencies, the first recognized clinical episode may be delayed for months or years. Early in life, infants with urea cycle disorders develop toxic levels of ammonia build-up in the blood.
#CBS #23andMe #health #MTHFR #Livewello
#Genes #Methylation #SNPs #gene ..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

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 Dopamine ?

  4 years, 3 months ago

Think “delightful dialogue” with #dopamine since this #neurotransmitter is crucial for happiness, a sense of wellbeing, and language. It’s also involved in #muscle control and function. Dopamine is responsible for #motivation , interest, #mood , #speech , and contentment. It is also associated with positive #stress states such as being in love, exercising, listening to music, and of course, #sex . When you don't have enough dopamine, you may have difficulty initiating or completing tasks. Deficiencies also lead to poor #concentration , little or no energy, and lack of motivation. This could be the culprit if you lack the initiative to study the ... ..more

Annonymous

What is a CBS C699T Gene Mutation ?

  4 years, 3 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

Annonymous

What is the Urea Cycle ?

  4 years, 3 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