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What is MTHFR A1298C Gene Mutation ?

  6 years, 4 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

At the bottom of your #Livewello gene variance report there is a legend table that describes what your results mean.

The variance report is essentially a table where each row represents a Single Nucleotide Polymorphism (SNP). The columns in the table are:

1) SNP or name of the gene variation.

2) rsID. This is a unique number assigned to each SNP, by dbSNP.

3) Minor Allele. An allele is the nucleotide that is present at a gene location. This can be one of 4 nucleotides - A, T, C and G. A pairs with T on the opposite DNA strand, and ... ..more

Your #Livewello gene variance report is a graphical representation of your genetic raw data, displayed as a color coded chart. You can start learning by reviewing the phenotypes colored as red for homozygous, and yellow for heterozygous. Even though these SNPs appear as "abnormal phenotypes" on your report, this does not necessarily mean that you will manifest the associated disease. It is still a good starting point to learn more about these health conditions that may affect you.

Your report has 5 columns: SNP, rsID, Minor Allele, Genotype and Phenotype. Data in each of these columns has hyperlinks which take ... ..more


What is Epigenetics?

  6 years, 7 months ago

Histamine def:
“Histamine is an organic nitrogenous compound involved in local immune responses as well as regulating physiological function in the gut and acting as a neurotransmitter. Histamine is involved in the inflammatory response.” [wiki]



After eating certain histamine aggravating foods or when there is an excessive quantity of released HISTAMINE in the body symptoms may include:
Dry nose
Gastrointestinal complaints
Itchy skin
Menstrual pain [worse]
Migraine headache
Red skin
Rhinitis [vasomotor rhinitis]
Soft stools
Reduced function of the enzyme Diamine ... ..more

Julie Matthews, Author Nourishing Hope: Benefits range dramatically from child to child. Many parents report that their children make wonderful gains in language when starting a special diet, such as gluten-free casein-free – it may be an increase in words, speaking in sentences, or back and forth conversation. Some children make gains in behavior, a reduction in irritability or tantrums, or less hyperactivity. Other children have improvements in the quality of life, relief of digestive upset, fewer colds and infections, and are happier and healthier. While benefits differ, my experience as a Certified Nutrition Consultant specializing in autism for the past ... ..more

This site will help you determine foods with highest or lowest concentrations of specific nutrients. For example, generate a list of low-carbohydrate foods, or identify foods from a particular category that are high in protein and low in fat.
Read More http://nutritiondata.self.c...
#Homozygous #MTHFR #Heterozygous #health #Livewello #23andMe #SNPs #Genes #Methylation

Read MTHFR Related Health Problems by Stephen Smith M.D  ..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


What is Homozygous & Heterozygous ?

  6 years, 9 months ago

Download the free Health Management Mobile App for your iPad or iPhone at:
#Homozygous #MTHFR #Heterozygous #health #Livewello #23andMe #SNPs #Genes #Methylation #Lifestyle ..more