Many people who live with a wide variety of chronic illness may have underlying genetic factors that can contribute to their health challenges. They can be something directly inherited from a parent - a genetic mutation that makes it more difficult for the body to maintain health - or even genes that are turned on by environmental factors or stress.
MTHFR - [a muted gene that can affect pregnancy and the body's ability to detoxify] - is a slight change in an important sequence of DNA - which tells the body how to make an enzyme that helps create "Methyl-folate" from foods that contain folate.
MTHFR - Methylene-Tetra-Hydro-Folate-Reductase - is an enzyme in the cells that metabolize and eliminates "Homocysteine" - which is a amino acid toxin, that damages the "Endothelial" cell wall that lines the:
It is responsible for transforming folic acid [folate] to its active form "Methyl-folate" [a nutrient that the body uses to metabolize other nutrients, and aid in detoxification - so that the body can continue to produce new healthy cells]
One in three people have a variant of the gene that makes MTHFR - which can be assessed with a simple blood test - if its positive you may need a higher dose off B vitamins.
If there is a deficiency of 'Folate' - B6 and/or B12 in the body levels of 'Homocysteine' can increase.
Those with a defective MTHFR gene mutation are unable to process 'Folate' properly.
Low levels of folic acid and vitamin B12 are also associated with this genetic mutation, which increases:
The risk of neural tube defect [spina bifida]
Elevated levels of 'Homocysteine' in the blood are a risk factor for vascular disease independent of:
Elevated levels of cholesterol in the blood
The gene MTHFR - encodes the MTHFR enzyme which is in charge of a multi-step process converting 'Homocysteine' into the healthy amino acid 'Methionine' - an important antioxidant in the body for the production of healthy eggs and sperm - responsible for:
Maintaining liver health by helping to remove heavy metals and toxins from the body
An irregular change in gene structure [a mutation] of the MTHFR gene can cause:
An interruption of the MTHFR enzymes regular function of breaking down 'Homocysteine' [a bad amino acid]
An inability to appropriately process B vitamin [folate]
Anyone with MTHFR gene mutation can have high levels of 'Homocysteine' - but not everyone with the gene mutation has a 'Homocysteine' issue.
Poor levels of 'Methionine' - can lead to heavy metal and toxin build up in the body, which can raise the risk of:
Arteriosclerosis - a condition affecting the arteries
Fatty liver degenerative disease
increased free radical damage
MTHFR Gene Mutation - depending on what mutation of MTHFR you have - the body cannot 'Methylate' - 'Methylation' affects the body's:
Natural detoxification process
immune function - including autoimmunity
Formation of neurotransmitters
The MTHFR gene is made up of 2 common mutations:
C677T MTHFR mutation [the serious one] - is found in over 5-10% of the population
A1298C MTHFR mutation affects some 20 to 30% of the general public
Some people may have a genetic mutation in one or both of their MTHFR genes, which are known as:
Heterozygous - for those with mutations found in one MTHFR gene [defective gene has been inherited from one parent - and will be found in just one strand of DNA]
Homozygous - for those with mutations found in both MTHFR genes -[defective gene has been inherited from both parents - and will be found on both DNA strands]
Genetic variation in this gene influences peoples susceptibility to:
Methylenetetrahydrofolate reductase deficiency
Recurrent unexplained miscarriages/pregnancies with neural tube defects
Colon cancer and acute leukemia
chronic pain/fatigue/nerve pain
inappropriate blood clotting and the problems caused by clots [embolism/stroke/heart attack]
Most people with the MTHFR mutation will not experience such serious conditions - but rather trouble healing from:
MTHFR Pregnancies and Miscarriage
One of the main issues with the prevalence of the MTHFR gene is the build up of 'Homocysteine' [in which the body cannot convert it to 'Methionine'] in the blood stream decreasing production of 'Methionine' - which can cause problems with blood clots and has been widely linked to recurrent miscarriages.
While some MTHFR mutations are not a cause for concern there is one - if the gene is found to be 'Homozygous' - a mutated gene which has been inherited from both parents, it can lead to:
Long standing infertility
According to MTHFR expert Dr John Lynch, www.mthfr.net - MTHFR miscarriages and recurrent pregnancy loss are linked particularly if either the male or female have:
1 or more copies of the C677T MTHFR mutation
1 copy each of A1298C and C677T or
2 copies of A1298C or
A single copy of A1289C MTHFR mutation may not be related - however, he is still on the fence about this for various reasons.
Many people who live with a wide variety of chronic illness have underlying genetic
factors that can contribute to their health challenges. They can be something directly inherited from a parent - a genetic mutation.