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
The MTHFR Gene, when expressed, causes the body to become unable to turn folic acid into methylfolate, so folic acid builds up in the body unused and causes health issues. MTHFR means you need to eat unprocessed foods, read food labels and avoid: enriched wheat, flour, cereals with folic acid, etc Eating an Organic, Non GMO, Gluten Free diet is also crucial.
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
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
Functional medicine testing involves laboratory tests for biochemical and nutrient imbalances. Testing is individualized for each patient, based on their symptoms and medical history.
“We can also test for imbalances in other areas that give us specific information to create a personalized treatment plan for each patient,” says Dr. Young. Examples include:
Detoxification and biotransformation imbalances
Underlying causes of inflammation
Digestive and absorptive imbalances
Imbalances in gut microbiota
Genetic mutations like MTHFR that influence methylation pathways
On #Livewello, profiles are the people that you are caring for. You can share these profiles with other people who we call "Health villagers". (These are the people that are helping to care for you.)
To share a profile with a Health villager:
- Click on the Profile selector (top of the page)
- Click on "View all profiles"
- On the profiles page, find the person whose profile you want to share, then click the "Share button".
- You will be directed to a page where you can create a new Health villager and give them access to the various sections in your ... ..more
If you are a practitioner who uses #LiveWello to run gene variance reports, your clients can access their reports in one of two ways:
- Option 1. Share a report link. To do this, open their report, copy the link at the top of the page and share it with them.
Option 2. Share their profile. If you are the one who created the profile, you can share access to that profile with anyone: -
Sharing a #Livewello variance report is as easy as copying and pasting a web link. This link is located just above every report. The shared report will display your name at the top of the page, and when anyone clicks on your shared link, you will receive an email notification.
To share anonymously:
- Click on the "Report settings" link above the report.
- Uncheck the box labeled "Display name"
Now when the report is shared, it will be titled "Anonymous", instead of displaying your name.
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