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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

MTHFR C677T and A1298C…how they don't work correctly By Carol Savage

MTHFR C677T...METHYLATION CYCLE...Epigenetics [SAMe and methylation of our DNA]

The MTHFR C677T snps causes the enzyme to be unable to utilize the cofactor FAD/FADH2 properly. The snp mistake [C677T] causes the enzyme to be temperature labile. As a result, the cofactor FAD disengages and subsequently L-Methyl Folate [5-MTHF] cannot be made. So, MTHFR C677T interferes with the forward action of the MTHFR enzyme and subsequently interferes with the conversion of Homocysteine into Methionine and the making of SAMe.

L-Methyl Folate is most beneficial to ... ..more

MTHFR and L-METHYL FOLATE… Some Basic Information By Carol Savage M.D.

If you have the MTHFR Gene Mutations C677T and or A1298C and are already taking some L-Methyl Folate [5-MTHF] and Vitamin B12 you might also consider the following:

FOOD Eat plenty of Green Vegetables and beans to get some Dihydrofolate [DHF] and Vitamin B2 [Riboflavin] and many other naturally occurring minerals and vitamins that the body needs etc.

DIHYDROFOLATE [DHF] Dihydrofolate is needed to provide the earlier FOLATE PATHWAYS [the reactions that occur prior to the MTHFR enzyme] with the kinds of folates that they need in order ... ..more

*Circulatory & blood clotting factors
*DNA synthesis & repair via thymidine synthesis
*Gene expression via epigenetic regulations such as histone modification
*Nitric oxide synthesis, aka blood vessel elasticity
*Removal of homocysteine, a potentially toxic and atherogenic amino acid
*Synthesis of powerhouse antioxidants such as Glutathione & SOD
*Neurotransmitter synthesis & degradation - dopamine, serotonin, norepinephrine, glutamate, GABA
*Biotransformation (aka “metabolism & detoxification”) of chemicals, carcinogens & drugs
*Synthesis of immune cells
*B-12 & Folate utilization
*Organ, tissue and fetal development

While their program is expensive it does seem like it would really make one a kind of expert.

Now if I could just find common, insured tests for ... ..more

The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the B-vitamin folate (also called folic acid or vitamin B9). Specifically, this enzyme converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
How are changes in the MTHFR gene related to health conditions?
homocystinuria - caused by mutations ... ..more


What is the process of Methylation?

  3 years, 6 months ago

Methylation is a key biochemical process that is essential for the proper function of almost all of your body’s systems. It occurs billions of times every second; it helps repair your DNA on a daily basis; it controls homocysteine (an unhealthy compound that can damage blood vessels); it helps recycle molecules needed for detoxification; and it helps maintain mood and keep inflammation in check.

To keep methylation running smoothly you need optimal levels of B vitamins. Without enough B vitamins methylation breaks down, and the results can be catastrophic. In these cases we see more birth defects like spina ... ..more


What is Methylation?

  3 years, 6 months ago

The methylation pathway can be likened to the body’s chief housekeeping and maintenance systems. It is responsible for many of the most complex and vital undertakings throughout the body, occurring each time the body takes one substance and turns it into another. This chemical exchange occurs between enzymes, amino acids, proteins, and other molecules in order to maintain cell function. Methylation regulates gene expression, allowing beneficial genes to function while keeping less desirable genes at bay. It also provides the backbone for the immune system, DNA, RNA, cellular repair, detoxification, hormone regulation, and communication between the cells and ... ..more


8 Factors that Affect Your Methylation Process

--Genetics – Like an estimated 20 percent of us, you could be genetically predisposed to high homocysteine

--Poor diet – The word “folate” comes from “foliage.” You need to eat plenty of leafy greens, beans, fruit, and whole grains to get adequate levels of vitamins B6 and B12, betaine, and folate. Egg yolks, meat, liver, and oily fish are the main dietary sources of vitamin B12 — so long-term vegan diets can be a problem. Plus, certain compounds can raise levels of homocysteine and deplete the B vitamins. These include excess animal protein, sugar, saturated fat ... ..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

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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 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

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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


What does Methylation do?

  3 years, 10 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

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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