Genetic mutations are present in everyone and they can play key roles in the development of diseases. However, there are numerous and complex factors that will affect the status of your health, in addition to inherited genetic mutations. Many of the genetic mutations are not problematic or expressed, because the body has learned how to adapt despite their presence. But many other mutations are indeed a real health problem. The association of symptoms and correlation with other laboratory tests is essential in understanding the expression of certain genetic mutations.
The epigenome (the multitude of chemical compounds that tell the genome what to do) is directly and indirectly influenced by the presence or absence of key nutrients in the diet, as well as exposure to toxins, chemicals, pathogens and other environmental factors.
What we eat and what we are exposed to in our environment directly affects our DNA and its expression.
Each gene has hundreds or thousands of variations. These are known as SNPs (singular nucleotide polymorphisms). Genes operate by encoding enzymes. You can think of this as a copying system. The original pattern (gene sequence) transcribes a duplicate in the form of RNA (ribonucleic acid), which then encodes a specific enzyme. Enzymes work to generate biochemical reactions in various processes in the body. If certain genetic mutations are expressed, the enzymes that are encoded by the gene may be absent, partially functional, or in a state of “overexpression.” This impairment of function is an essential component in how genetic mutations are involved in negative symptoms and the disease process.
Genetic testing cannot be used to make a diagnosis. The most honest and accurate way to use the data provided by these tests is the clinical evidence for dysfunctional mechanisms and blockages in the body that cause health problems.
Methylation Defects. Mutations in the MTHFR Gene.
Many medical experts are convinced that genetic information holds the key to developing more effective healing programs, better predictability of diseases, and better protection against them. Although these things are true, the fixed genetic sequence will not necessarily guarantee that you will have a life full of diseases, just as it will not provide you with any protection against diseases. But genetic mutations can be a weak link and can increase your vulnerability to certain diseases, especially when coupled with triggers such as environmental toxins or a nutritional deficiency. One such example is the MTHFR mutation. If you have this mutation and it is expressed, serious consequences can occur in your state of health.
MTHFR (methylenetetrahydrofolate reductase) is an enzyme that adds a methyl group to folic acid to make it available to the body. It plays a significant role in the body’s methylation mechanism and is thus essential in the production of key nutrients. (Methylation is a vital cellular activity that contributes to detoxification, controls inflammation and balances neurotransmitters. Methylation defects can result in emotional and mood disorders, as well as multiple imbalances in the function of the liver, heart, pancreas, stomach, intestines, adrenal glands. and thyroid.)
When methylation requires more support, MTHFR produces more methylfolate. When methylation is adequate, MTHFR slows down production and preserves folate. So MTHFR is a regulator. It’s like having a button for “off” and “on”. When activated, the body’s main methyl donor, SAMe, is produced. When MTHFR is stopped, the body preserves folate so that it can use it to produce DNA, among other things.
Therefore, MTHFR regulates the process of methylation and folate.
If the mutation is present and expressed, then a person may become deficient in 5-MTHF (5 methylenetetrahydrofolate), which is significant for health. One of the essential roles of MTHFR and 5-MTHF is to assist in the reconversion of homocysteine to L-methionine. Homocysteine is an oxidized amino acid derived from L-methionine. In the methylation cycle, homocysteine must be converted back to L-methionine. If not transformed effectively, homocysteine levels can remain high, increasing the risk of cardiovascular disease and cancer.
When mutations of this gene are found, the function of MTHFR is reduced by 20-80%, depending on the type of mutation. Given the major impact of methylation on the body and the fact that MTHFR regulates this process, mutations in this gene can theoretically affect almost all existing symptoms and conditions. However, things are very individual and controlled by the influence of epigenetics.
Mutations in MTHFR and deficiencies in 5-MTHF may predispose the fetus to neural tube defects in the uterus, such as spina bifida. MTHFR mutations are also significant in the development of conditions such as dementia, autism (very prevalent!), Schizophrenia, colon, rectal and breast cancer. It is estimated that about 50% of the population has such a genetic mutation; some are more problematic than others. The type of MTHFR variation may cause greater susceptibility to certain conditions. For example, the C677T mutation may predispose to cardiovascular disease, neuropathy, and neural tube defects. The A1298T mutation can predispose to fibromyalgia, schizophrenia, neuralgic pain, migraines, Parkinson’s, chronic fatigue and dementia.
If you have an MTHFR mutation, it is equally important to know if there are other mutations, especially if you are prone to chronic diseases. Other genes that are significant in the methylation cycle outside of MTHFR include: CBS (cystathionine beta synthase), BHMT (betaine homocysteine methyltransferase), MTRR (methionine synthase reductase), SUOX (sulfite oxidase).
MTHFR is just one of many potential genetic mutations. It is more important to understand the function of whole groups of genes in biochemical mechanisms than to know only whether or not mutations exist in one or two genes.
Interpretation of Genetic Mutations in Biochemical Individuality.
What matters most is the varied biochemical activity of your body. The capacity and amplitude of certain biochemical mechanisms to function can of course be influenced by inherited genetic status. If there is a key mutation in a particular biochemical mechanism, especially if there is a double mutation (+/+), the corresponding enzyme that works in certain biochemical processes may not work at an optimal level. This will definitely cause health problems.
By knowing the genetic configuration it is possible to detect and prevent a health problem that is related to that gene. For example, the double mutation in the MTHFR C677T, + / + gene causes the enzyme encoded in this gene to function at a very low capacity. Thus there is a risk of specific diseases such as cancer, Alzheimer’s, dementia, problems with blood clotting. In this case, the enzyme 5-methylene tetrahydrofolate will tend to a low level, especially when conditions allow. Because of this key defect, other enzymes in the methylation cycle will also be affected. Because 5-MTHF is a cofactor in the elimination of homocysteine, low folate levels will cause excess buildup. When homocysteine accumulates, it will cause cellular toxicity and increase certain inflammatory proteins.
But simply supplementing with 5-MTHF is not the solution, as long as it does not integrate other important information and key nutrients that are needed. Many people who take such genetic tests and rely on generic interpretations start supplementing exclusively and long term with 5-MTHF, which will generate negative symptoms such as: changes in neurotransmitters, increased glutamate levels and low serotonin.
This is because the supplementation was directed only at one enzyme, instead of focusing on the entire biochemical mechanism.
At the same time, just because you don’t have a certain genetic mutation doesn’t mean that the enzyme encoded in that gene can’t have reduced functions! Improper diet, certain medications and many other toxins in the environment can significantly affect its functioning, even with a gene without mutations.
Therefore, it is essential to use certain biochemical tests to collect clinical evidence, understand weaknesses, identify dysfunctions and build a valuable nutritional protocol based on clinical evidence.
In this sense, a complete blood test and a functional and integrative interpretation can provide important information about what is happening in the body at the moment: if there is dysglycemia, data on liver and kidney function, the value of nutrients related to methylation, protein metabolism, antioxidant activity, glutathione status, urea cycle, amount of ammonia, inflammatory activity and much more. Analysis of thyroid markers, TPO Ab, zinc, copper, histamine, homocysteine, vitamin B12 and folate are also important for establishing methylation function, brain neurotransmitter integrity, and inflammatory activity, among others.
The organic acid test provides a complete analysis of metabolites. It is one of the best tests to identify key nutrient deficiencies in specific biochemical mechanisms and processes such as methylation, detoxification, urea cycle, neurotransmitter balance, glutathione activity, fatty acid utilization and ATP synthesis.
Hair tissue mineral analysis is a very valuable analysis for identifying heavy metal toxicity, mineral use and endocrine and digestive imbalances.
The Genetic Test
Nowadays it is very easy to find out what genetic mutations you have through the 23andme salivary test or other genetic test available. However, the result provided must be processed using special software, and then interpreted accordingly, together with other individual clinical information mentioned above. You can find more information about performing this test here.
Genetic Mutations and Genetic Testing. A Summary:
- inherited genes do not change, but their expression can change.
- what we eat and what we are exposed to in our environment directly affects our DNA and its expression.
- genetic testing cannot be used to make a diagnosis.
- it is impossible to “treat” the genetic material, only the person can be treated.
Genetic testing is best used to guide an existing healing protocol, NOT to create it. So they are not used exclusively.
In order to correct the “blockages” that genetic mutations generate and which thus affect a multitude of metabolic processes, it is necessary to supplement with certain key nutrients in their active form. This is individual and must be correlated with the person’s entire health profile.
Who can benefit the most from genetic testing?
- people with inflammatory problems: vascular, immune, endocrine, gastrointestinal
- people with detoxification problems
- people with neurological problems, autism, epilepsy, sudden mood swings, behavioral and cognitive problems