This genetic methylation test covers an extensive 92 genes, and 113 SNP’s, (including the MTRR, MTR, MTHFR, COMT genes) and is performed by a NATA accredited international laboratory.
The regulation of methylation pathways, is influenced by both genetic and environmental factors. Genes encoding enzymes like DNA methyltransferases play a crucial role in determining the DNA methylation pattern, affecting gene expression - whether genes are turned on or off. However, environmental factors such as diet, exposure to toxins, and stress also impact methylation patterns.
The simple cheek swab test covers an extensive 92 genes and 113 SNP’s across the following categories:
- Methylation
- Digestion
- Energy
- Hormones
- Stress & Cognitive Performance
- Inflammation
- Athletic Performance
- DNA Protection & Repair
- Detoxification
A genetic strength and weaknesses report is provided with personalised nutrition and lifestyle recommendations to help you optimise your methylation pathways.
What we test
CBS Mutations
The CBS enzyme converts homocysteine into hydrogen sulfide (H2S) and glutathione, with the help of vitamin B6 and SAMe. These substances play roles in various cellular processes, including detoxification.
There is evidence to suggest that certain variations in the CBS gene, can reduce the efficiency of homocysteine conversion and can result in a build up of homocysteine in the blood, leading to cardiovascular issues. Other mutations in the CBS gene may reduce the efficiency of arsenic detoxification pathways, potentially leading to arsenic accumulation in the body. Arsenic accumulation is a concern due to its toxicity and potential health effects.
The CBS enzyme converts homocysteine into hydrogen sulfide (H2S) and glutathione, with the help of vitamin B6 and SAMe. These substances play roles in various cellular processes, including detoxification.
Certain variations in the CBS gene, such as rs234709 and rs4920037, have been associated with arsenic detoxification. Mutations in these genes can affect the efficiency of arsenic detoxification pathways, potentially leading to arsenic accumulation in the body. Arsenic accumulation is a concern due to its toxicity and potential health effects
The CBS enzyme helps change homocysteine into hydrogen sulfide (H2S) and glutathione. It needs vitamin B6 and SAMe for this process. There is evidence to suggest that mutations in this gene can lead to increased homocysteine levels.
The CBS enzyme converts homocysteine into hydrogen sulfide (H2S) and glutathione, with the help of vitamin B6 and SAMe. These substances play roles in various cellular processes, including detoxification.
Certain variations in the CBS gene, such as rs234709 and rs4920037, have been associated with arsenic detoxification. Mutations in these genes can affect the efficiency of arsenic detoxification pathways, potentially leading to arsenic accumulation in the body. Arsenic accumulation is a concern due to its toxicity and potential health effects
COMT Mutations
COMT plays a crucial role in regulating the levels of important chemicals like dopamine, adrenaline, and estrogen in your body. It does this by deactivating these substances after they've served their purpose, helping to maintain balance and prevent any harmful build-up. Magnesium, vitamin C and copper are used to support its activity.
COMT influences mood indirectly by regulating levels of neurotransmitters like dopamine, while directly impacting the breakdown of substances such as dopamine and adrenaline, which are known to affect mood. Mutations in COMT can impact its activity, leading to differences in neurotransmitter levels and influence mood stability and susceptibility to stress or anxiety.
The rs4680 variation of the COMT gene affects how quickly your body breaks down dopamine, a chemical messenger in the brain. Some people have a version of this gene that makes the breakdown process faster (Wild Type genotype), while others have a version that slows it down (Homozygous genotype).
If you have the wild type genotype (Wild type), you might find that you're pretty good at adapting to changes and new situations. However, you might also feel stressed or anxious more easily because your brain processes dopamine faster.
On the other hand, if you have the Homozygous genotype, you might have a more stable mood, but you might struggle with tasks that require quick thinking because your brain doesn't process dopamine as rapidly.
Research has shown those the AG (Heterozygous) genotype, demonstrate higher levels of dopamine activity and tend to perform better on cognitive tasks that involve aspects such as memory, attention, and problem-solving, which are influenced by dopamine levels in the brain.
rs4633 is another variant of the COMT gene that can affect enzyme activity and dopamine metabolism, though its effects may be less extensively studied compared to rs4680. Mutations in rs4633 may similarly influence cognitive and emotional functions, potentially impacting mood stability and cognitive performance.
Research has shown those the Heterozygous or Homozygous genotype, demonstrate higher levels of dopamine activity and tend to perform better on cognitive tasks that involve aspects such as memory, attention, and problem-solving, which are influenced by dopamine levels in the brain.
MTHFD1 Mutations
MTHFD1 is a gene involved in processing a vitamin called folate, which is important for making DNA and other molecules in the body. Certain changes or mutations in the MTHFD1 gene can affect how well it works. For example, there is research to suggest that the rs2236225 (G1958A) mutation may be linked to a higher chance of birth defects like spina bifida if a pregnant woman doesn't get enough folate.
MTHFD1 helps convert one form of folate into another form that is critical for making DNA and RNA, as well as for providing methyl groups for important cellular processes like methylation. Dysregulation of folate metabolism, such as through mutations in MTHFD1, results in a lower levels of active folate which is a key input for downstream biological pathways.
MTHFR Mutations
Two relatively common DNA sequence variants known as single nucleotide polymorphisms (SNPs) are tested. These two MTHFR variants are called C677T and A1298C and individuals can inherit one or both variants.
Please note if you are considering the myDNA Comprehensive Health Report or Genetic Methylation Test, this test is covered within that and does not need to be ordered separately.
If someone has two copies of the MTHFR C677T, or one copy of C677T and one of A1298C, a decrease in the activity of MTHFR enzyme slows down the homocysteine conversion process leading to a build-up of homocysteine in the blood.
If someone has two copies of the MTHFR C677T, or one copy of C677T and one of A1298C, a decrease in the activity of MTHFR enzyme slows down the homocysteine conversion process leading to a build-up of homocysteine in the blood.
MTR and MTRR Mutations
MTR (methionine synthase) and MTRR (methionine synthase reductase) are specialised enzymes in your body responsible for converting one molecule called homocysteine into another important molecule called methionine. This conversion requires co-factors (non protein molecules that are required for the proper functioning of an enzyme) such as vitamin B12, which play essential roles in the process. Methionine is crucial for making proteins and chemicals needed for your body, like those for your brain. If these enzymes don't have the right co factors or can't function correctly, it can lead to health issues, such as heart disease or problems with brain function.
There is research to suggest that risks are associated with either two copies of mutated genes for both MTR and MTRR, or one mutated MTR gene and 2 mutated MTRR genes.
MTR (methionine synthase) combines folate, methyl B12 and homocysteine into methionine. Homozygous mutations in the MTR gene, where both copies of the gene are mutated, generally have a greater impact on enzyme function compared to heterozygous mutations unless these are combined with a Homozygous MTRR mutation. This can lead to more pronounced reductions in methionine production and higher homocysteine levels, potentially increasing the risk and severity of associated health conditions such as coronary artery disease.
PEMT Mutations
The PEMT gene encodes an enzyme crucial for producing phosphatidylcholine, a key component of cell membranes and lipoproteins. Mutations in PEMT can disrupt phosphatidylcholine synthesis, potentially affecting liver function, lipid metabolism, and brain health. Reduced enzyme activity due to mutations may contribute to liver disorders and dyslipidemia, while altered phosphatidylcholine levels in the brain could impact neurological function and cognitive health. Variants in PEMT may increase the need for dietary choline.
A heterozygous or homozygous PEMT rs7946 is associated with having lower phosphatidylcholine production in the liver. Choline is essential for a neurotransmitter called acetylcholine, which helps send messages through the vagus nerve to various organs like the lungs, heart, and brain. If you don't get enough choline, it could affect memory and sleep, as well as how your organs work.
The following drugs (antidepressants, antihistamines, anti-anxiety medications, anti-seizure drugs, muscle relaxants, tranquilizers, sleeping pills, and pain medications) should be avoided if you have a mutation as they block acetylcholine and can cause memory loss.
Over 40% of women carry a genetic variation in PEMT (rs12325817) that makes the gene less responsive to estrogen, increasing their choline needs similar to men, potentially affecting pregnancy outcomes. Homozygous women for the rs12325817 SNP show higher rates of choline depletion, highlighting the importance of choline intake. A single gene mutation is most prevalent amongst the population.
This SNP has also been associated with variations in phosphatidylcholine levels, which may impact brain function and potentially influence sleep regulation.
Genetic Variations of Note
Research indicates that specific genetic variations are associated with a higher likelihood of developing Alzheimer's disease, hemochromatosis, or celiac disease. These conditions are prevalent among individuals with certain genetic makeups, highlighting the importance of understanding genetic predispositions in disease susceptibility.
Apolipoprotein E (APOE) is a lipid binding protein that transports triglycerides and cholesterol in multiple tissues, including the brain. There is research to suggest that the APOE-e4 allele has the strongest risk factor gene for Alzheimer’s disease since over 60% of persons with Alzheimer’s disease harbor at least one e4 allele. The e4/e4 genotype is cited as being a higher risk than e3/e4. However, inheriting a single or double ApoE4 genotype does not mean a person will develop the disease as there are many other epigenetic factors at play.
Apolipoprotein E (APOE) is a lipid binding protein that transports triglycerides and cholesterol in multiple tissues, including the brain. There is research to suggest that the APOE-e4 allele has the strongest risk factor gene for Alzheimer’s disease since over 60% of persons with Alzheimer’s disease harbor at least one e4 allele. The e4/e4 genotype is cited as being a higher risk than e3/e4. However, inheriting a single or double ApoE4 genotype does not mean a person will develop the disease as there are many other epigenetic factors at play.
There is research to suggest that mutations in the HFE C282Y may lead to an iron overload due to increased iron absorption and disrupted metabolism. Individuals who carry two copies of the HFE C282Y gene mutation, known as homozygotes, represent the majority (85 to 90 percent) of individuals with hemochromatosis. Whilst those with only one mutation in the HFE C282Y gene are associated with a lower risk of iron overload you may want to consider talking to your doctor about further testing if hemochromatosis runs in your family and have either of these mutations.
Celiac disease is an immune reaction to eating gluten, a protein found in wheat,barley and rye. Published research shows that approximately 30 percent of the general population have variants in the celiac disease risk genes HLA-DQA1 through HLA-DQB, yet only 3% of these individuals develop celiac disease.
Celiac disease is an immune reaction to eating gluten, a protein found in wheat,barley and rye. Published research shows that approximately 30 percent of the general population have variants in the celiac disease risk genes HLA-DQA1 through HLA-DQB, yet only 3% of these individuals develop celiac disease.
Test instructions
Your test kit and all instructions are posted directly to you, and there is no need to visit a collection centre.
Mail your sample back to the lab according to the instructions provided with your kit
Results for this test available in 21-24 business days from being received at the lab and will be published in your online dashboard.
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