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Annonymous

What are RefSNP Alleles?

  4 years, 5 months ago

RefSNP alleles are the alleles submitted by genetic researchers for a particular SNP. for example CBS C699T has RefSNPs A/G. This means that the researcher found A on one chromosome strand and G on the other, at the gene location for CBS C699T.

RefSNP Alleles for a particular gene location in a genome build, are submitted to dbSNP by multiple genetic researchers. Each SNP will usually only have two RefSNP alleles. When different researchers submit conflicting information about RefSNP alleles, then it is possible for more than 2 alleles to be listed for one SNP, making it more difficult ... ..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

Changes that affect the structure of chromosomes can cause problems with growth, development, and function of the body’s systems. These changes can affect many genes along the chromosome and disrupt the proteins made from those genes.

Structural changes can occur during the formation of egg or sperm cells, in early fetal development, or in any cell after birth. Pieces of DNA can be rearranged within one chromosome or transferred between two or more chromosomes. The effects of structural changes depend on their size and location, and whether any genetic material is gained or lost. Some changes cause medical problems ... ..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

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

Annonymous

What is IL13?

  4 years, 11 months ago

#IL13
This #gene encodes an immunoregulatory cytokine produced primarily by activated #Th2 cells. This #cytokine is involved in several stages of B-cell maturation and differentiation. It up-regulates CD23 and MHC class II expression, and promotes IgE isotype switching of B cells. This cytokine down-regulates macrophage activity, thereby inhibits the production of pro-inflammatory cytokines and chemokines. This cytokine is found to be critical to the pathogenesis of allergen-induced asthma but operates through mechanisms independent of IgE and eosinophils. This gene, #IL3 , #IL5 , #IL4 , and #CSF2 form a cytokine gene cluster on chromosome 5q, with this #gene particularly close to IL4. [provided ... ..more

This is a statement from Dr. Iwegbue, Founder and Lead Developer of the Livewello Gene App:

I'd like to share with you the reason why 23andMe Variance Report results sometimes differ depending on the App used. Results are determined by the Minor Allele used:
All of LiveWello's Minor Allele information is retrieved directly from dbSNP. A link to dbSNP is added to every SNP in a Livewello Gene Variance Report. That way, a user and their Practitioner can verify minor allele information for themselves.

At Livewello, we only use the forward strand for interpreting all our SNPs. This ... ..more

Annonymous

What is APOE?

  4 years, 11 months ago

Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The #APOE #gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in #apolipoprotein E result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma #cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by ... ..more

Annonymous

What is a " strand " ?

  4 years, 11 months ago

#Strand refers to #DNA strand. There are 2 of these for every #gene location. Plus (or forward) strand and minus (or reverse) strand.

Both of these have complementary information i.e. they have the opposite #nucleotide of a pair of nucleotides: A, T, C, G, such that if one has ‘A’ the other will have ’T’, and if one has ‘C’, the other will have ‘G’. This is usually the way in which nucleotides pair up on a person’s chromosome. So, chipsets used by personal genomic data companies like #23andMe , will only read from one of these two #chromosome ... ..more

Annonymous

WHAT IS MTHFR?

  5 years ago

MTHFR is a a key enzyme necessary for the metabolism of folate, an important B vitamin. In other words, MTHFR most often refers to a genetic mutation that affects our ability to methylate or convert folic acid from the food we eat, or supplements we take into Methylfolate (L-MTHF). L-MTHF is referred to as the "active" or usable form of folate that is required by our cells. Since our body's cells cannot utilize folic acid, it must go through a metabolic pathway or 4-step process to become converted into Methylfolate (L-MTHF) so our cells can use it. It is ... ..more

MAO-A (Monoamine oxidase A) is a critical enzyme involved in breaking down important neurotransmitters such as serotonin, norepinephrine, and dopamine. While a homozygous (+/+) mutation is very common, prolonged periods of stress, violence, or trauma can lead to epigenetic changes that further decrease enzyme activity. On the table above, males only have one allele since the gene is inherited through from their mother since it is located on the X chromosome.
Males are more likely to have this mutation, represented on the table as homozygous (+). Only females can be heterozygous (+/-) for this mutation.

When a (+/+) MAO-A mutation is combined with a ... ..more

Strand refers to DNA strand. There are 2 of these for every gene location. Plus (or forward) strand and minus (or reverse) strand. Both of these have complementary information i.e. they have the opposite nucleotide of a pair of nucleotides: A, T, C, G, such that if one has ‘A’ the other will have ’T’, and if one has ‘C’, the other will have ‘G’. This is usually the way in which nucleotides pair up on a person’s chromosome. So chipsets used by personal genomic data companies like 23andMe, will only read from one of these two chromosome ... ..more

Annonymous

Any thoughts on MTHFR and Lithium ?

  4 years, 11 months ago

#MTHFR #Lithium
Lithium has been known for years to be useful for #bipolar disorder. Despite all that is known about lithium and its impact on biochemical pathways, no one has defined the mechanism by which lithium has its impact on bipolar disorder. It is likely to be an effect on multiple pathways. There are a number of enzymes in the body that are known to be impacted and inhibited by lithium.

Lithium comes together with methylation at #COMT, the enzyme catechol-o-methyl-transferase. COMT breaks down #dopamine and #norepinephrine. Dopamine is a critical #neurotransmitter for motivation, focus and attention, among other functions ... ..more

This was copied from a Facebook post made by the Founder and Lead Developer of Livewello who is also an M.D. and has a son on the #Autism Spectrum

"I'd like to share with you the reason why 23andMe Gene results sometimes differ depending on the App used. This is because of the Minor Allele used:
All of LiveWello's Minor Allele information is retrieved directly from dbSNP. A link to dbSNP is added to every SNP in a Livewello Gene Variance Report. That way, a user and their Practitioner can verify minor allele information for themselves.

At ... ..more

Vimeo

Annonymous

WHAT IS MTHFR?

  5 years ago

MTHFR is a a key enzyme necessary for the metabolism of folate, an important B vitamin. In other words, MTHFR most often refers to a genetic mutation that affects our ability to methylate or convert folic acid from the food we eat, or supplements we take into Methylfolate (L-MTHF). L-MTHF is referred to as the "active" or usable form of folate that is required by our cells. Since our body's cells cannot utilize folic acid, it must go through a metabolic pathway or 4-step process to become converted into Methylfolate (L-MTHF) so our cells can use it. It is ... ..more