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#23andme currently only tests for THREE mutations in these genes. So, even if 23andme says you are normal for all three mutations, you could still have a harmful mutation somewhere else in one of these genes. Any harmful mutation means a person has Hereditary Breast/ #OvarianCancer Syndrome.

The three mutations 23andme tests for are found mostly in Ashkenazi (Eastern European) Jews. It just happens that these three mutations are easy to test for and are well-studied.

As a general rule, you are hoping NOT to see DI as the genotype at any of your #BRCA1 and #BRCA2 locations. Genotype DI ... ..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

Trying to find your results on the BRCA Genes tested on by 23andMe? Here's an easy way to check your BRCA1/BRC2 results:

 23andme currently only tests for THREE mutations in these genes. So, even if 23andme says you are normal for all three mutations, you could still have a harmful mutation somewhere else in one of these genes. Any harmful mutation means a person has Hereditary Breast/ Ovarian Cancer Syndrome. 

The three mutations 23andme tests for are found mostly in Ashkenazi (Eastern European) Jews. It just happens that these three mutations are easy to test for and are ... ..more

The plus (+) and minus (-)signs indicate the presence or absence of a mutation at a SNP. The signs are not arranged in any particular order. The only way to tell which is from which parent, is to compare your genotype with the genotype from both parents. If you are +/- for a SNP and your mother is +/+, then it means your father must be -/-

#Livewello ..more

When a genetic disorder is diagnosed in a family, family members often want to know the likelihood that they or their children will develop the condition. This can be difficult to predict in some cases because many factors influence a person’s chances of developing a genetic condition. One important factor is how the condition is inherited. For example:

Autosomal dominant inheritance: A person affected by an autosomal dominant disorder has a 50 percent chance of passing the mutated gene to each child. The chance that a child will not inherit the mutated gene is also 50 percent (illustration).

Autosomal ... ..more

Statistical data can provide general information about how common a condition is, how many people have the condition, or how likely it is that a person will develop the condition. Statistics are not personalized, however—they offer estimates based on groups of people. By taking into account a person’s family history, medical history, and other factors, a genetics professional can help interpret what statistics mean for a particular patient.

Some statistical terms are commonly used when describing genetic conditions and other disorders. These terms include:

Common statistical terms
Incidence
The incidence of a gene mutation or a genetic disorder ... ..more

The DNA sequence of a gene can be altered in a number of ways. Gene mutations have varying effects on health, depending on where they occur and whether they alter the function of essential proteins. The types of mutations include:

Missense mutation (illustration)
This type of mutation is a change in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene.

Nonsense mutation (illustration)
A nonsense mutation is also a change in one DNA base pair. Instead of substituting one amino acid for another, however, the altered DNA ... ..more

No; only a small percentage of mutations cause genetic disorders—most have no impact on health or development. For example, some mutations alter a gene’s DNA sequence but do not change the function of the protein made by the gene.

Often, gene mutations that could cause a genetic disorder are repaired by certain enzymes before the gene is expressed and an altered protein is produced. Each cell has a number of pathways through which enzymes recognize and repair mistakes in DNA. Because DNA can be damaged or mutated in many ways, DNA repair is an important process by which ... ..more

To function correctly, each cell depends on thousands of proteins to do their jobs in the right places at the right times. Sometimes, gene mutations prevent one or more of these proteins from working properly. By changing a gene’s instructions for making a protein, a mutation can cause the protein to malfunction or to be missing entirely. When a mutation alters a protein that plays a critical role in the body, it can disrupt normal development or cause a medical condition. A condition caused by mutations in one or more genes is called a genetic disorder.

In some cases ... ..more

A gene mutation is a permanent change in the DNA sequence that makes up a gene. Mutations range in size from a single DNA building block (DNA base) to a large segment of a chromosome.

Gene mutations occur in two ways: they can be inherited from a parent or acquired during a person’s lifetime. Mutations that are passed from parent to child are called hereditary mutations or germline mutations (because they are present in the egg and sperm cells, which are also called germ cells). This type of mutation is present throughout a person’s life in virtually every ... ..more

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

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

23andme currently only tests for THREE mutations in these genes. So, even if 23andme says you are normal for all three mutations, you could still have a harmful mutation somewhere else in one of these genes. Any harmful mutation means a person has Hereditary Breast/ Ovarian Cancer Syndrome.

The three mutations 23andme tests for are found mostly in Ashkenazi (Eastern European) Jews. It just happens that these three mutations are easy to test for and are well-studied.

As a general rule, you are hoping NOT to see DI as the genotype at any of your BRCA1/BRCA2 locations. Genotype DI ... ..more

Annonymous

What is the BCMO1 Gene ?

  4 years, 3 months ago

The #BCMO1 gene encodes the beta-carotene 15,15'-monooxygenase protein which cleaves beta-carotene symmetrically to yield two molecules of retinal. Polymorphisms in this #gene can affect serum #retinol concentration. In other words: this mutation may cause you to have lower retinol levels. #eyehealth ..more

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Annonymous

What is Nutrigenomics ?

  4 years, 3 months ago

Nutrigenomics is the study of how food and supplements, and the nutrients therein, may impact our health and well-being. Biomolecular Nutrigenomics is the medical application of this science and is founded upon our personal health issues, unique genetic blueprint and prior risks and exposures. In essence, it is the ultimate personalized treatment program.

Since there are numerous ways in which the food we eat or the supplements we take may prove harmful, this makes it crucial to study these food-gene interactions more extensively. Most realize that consuming highly refined, processed foods contributes to obesity. Yet what about the seemingly inconsequential ... ..more