Sign in to share an answer

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

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

This question is hidden

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, 10 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, 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

High dose #FolicAcid is the worst thing a person with the MTHFR gene mutation should take.
If a doctor tells a person with the #MTHFR gene mutations to take Folic ACID then that doctor does not really understand anything about the #L-Methyl Folate receptors on the Blood Brain Barrier [BBB]. The doctor does not realize that high dose Folic ACID is just going to block up the L-Methyl Folate Receptors on the BBB. When Folic ACID gets into the L-Methyl Folate Receptors it BLOCKS the receptor and it doesn't get into the brain and neither does the L-Methyl ... ..more


What is the Urea Cycle ?

  3 years, 10 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, 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

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)

This question is hidden

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

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
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


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

This question is hidden
This question is hidden

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



  3 years, 10 months ago

The Folate Receptor on the Blood Brain Barrier [BBB] that gets all blocked up by Folic ACID is called: Folate Receptor Alpha

Folic Folic ACID gets TOTALLY STUCK in this receptor...essentially ruining the receptor's ability to carry any reduced L-Methyl Folate into the Brain. The entire complex of the Folic ACID attached and stuck in the Folate Receptor Alpha must all be degraded and a new receptor will then need to be made all over again. the main reason why the supplement you want to get is L-Methyl Folate and NOT...unnatural SYNTHETIC...Folic ACID.

A ... ..more