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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

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 does Methylation do?

  4 years, 3 months ago

The Major Tasks of Methylation
In order to provide a brief overview, the following methylation tasks have been vastly streamlined. In reality, there is an endless array of both direct and indirect Methylation activities within the human body. Even so, this summary should provide greater understanding of this highly complex pathway, as well as the complications that can arise from various defects or toxic exposures.

Methylation is responsible for the following:
1. Nervous system function (brain, spinal cord, & nerve cells). It’s critical for the insulation around nerves (myelin), which allows signals to properly transmit via this sheath, or outer ... ..more

VDR
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

The major problem with unnatural synthetic FOLIC ACID is that when there is more #FolicAcid floating around in the blood stream than the real thing…L-Methyl Folate, then the excess Folic ACID can get stuck in the Folate Receptor Alpha [ #FRa ] receptor sites on the Blood Brain Barrier [BBB].

How the “FOLATE CYCLE” connects to the “ #BH4 TetraHydroBiopterine CYCLE” and how this influences the making of Neurotransmitters: #Melatonin, #Dopamine, #Norepinepherine and #Epinephrine [ #Adrenalin ].

Folic ACID completely blocks up the FRa receptor site on the BBB and the entire complex then has to be completely broken down to be recycled.
ONLY ... ..more

Methylenetetrahydrofolate reductase (MTHFR) supports one's health, well-being and detoxification and can be defective in a fairly large percentage of our population. About 45% of Caucasians, 70% of Hispanics and about 30% of southern Italians have a genetic defect.

The MTHFR gene produces the MTHFR enzyme. This enzyme is responsible for the circulating form of folate. Folate is very important in homocysteine regulation. The MTHFR enzyme metabolizes folic acid into 5-MTHF, which is needed to combine with homocysteine to break it down and to facilitate methylation (detoxification) processes in the body. The MTHFR enzyme is essential for the body 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

#Neurotransmitter
Lab Tests indicating a need for #Glutamate #GABA balance:
Elevated glutamate, #glutamine #glutamic acid on urine AA test
Elevated #aspartate #aspartic acid on urine AA test
Low GABA (gamma aminobutyric acid) on a urine AA test
Low GABA on a Neurotransmitter test
Elevated #quinolinic on #OAT #Metabolic Test
#Seizures
#Stims
Poor eye contact
#Aggressive behavior

#Supplements to balance Glutamate and GABA:
Nerve Calm Formula RNA
Comfort RNA
Be Calm Glutamate Spray/Gaba Spray
Melatonin Sleep Spray
#Progesterone cream- Pro-Gest Body Cream
GABA
Pycnogenol
Grape Seed Extract
Valerian Root
Jujube
#Lithium Orotate based on UEE levels
L-Theanine
Taurine (not for ... ..more

Elevated #glutamate , glutamine, glutamic acid on urine AA test
Elevated aspartate, aspartic acid on urine AA test
Low #GABA (gamma aminobutyric acid) on a urine AA test
Low GABA on a Neurotransmitter test
Elevated quinolinic on OAT/Metabolic Test
#Seizures
#Stims
Poor eye contact
#Aggressive behavior

Supports to balance Glutamate and GABA:
Nerve Calm Formula RNA
Comfort RNA
Be Calm Glutamate Spray/Gaba Spray
Melatonin Sleep Spray
Progesterone cream- Pro-Gest Body Cream
GABA
#Pycnogenol
Grape Seed Extract
Valerian Root
Jujube
#Lithium Orotate based on UEE levels
L-Theanine
Taurine (not for CBS + or SUOX Mutation unless suggested on testing)

#supplements ..more

Annonymous

Any idea what Methyl Donors are ?

  4 years, 3 months ago

Limit with COMT+/+ or VDR -/-
Unless you are consuming an excessive amount, there is really no need to limit natural foods with methyl or sulfur donors.
Foods: Eggs, Spinach, Kale, & Caffeine—Tea, Coffee, Chocolate
MSM
Melatonin CoQ-10/Idebenone
Carnitine
Theanine
SAMe
Methyl B-12
Curcumin
Quercetin
DMG
TMG
Folapro
Metafolin
Deplin (5-MTHF)
#MethylDonors #Methylation #Supplements ..more