Methylation is a chemical process that happens billions of times per second in every cell of the body and acts like billions of switches within the body – turning processes on and off, influencing and changing many things. Methyl groups that relate to methylation also help regulate mood, detoxify hormones, produce energy and promote healthy ageing.
The process of methylation requires vitamins, minerals and amino acids from the diet to keep this process running smoothly. Genetic factors and oxidative stressors can also affect how well this pathway works.
Why is methylation important?
Methylation is involved in basic energy production, fat metabolism, immune responses, vascular health and cell membrane repair. It is needed to create DNA and RNA and regulate gene expression. Methylation helps make creatine, required for skeletal muscle contraction, and it produces and metabolises neurotransmitters to regulate mood. It also works to neutralise toxins and hormones.
Methylation has an all-encompassing role in basic human physiology, so the range of symptoms associated with methylation defects is broad.
The Methylation Panel assesses the methylation cycle, and also incorporates the folate cycle and transsulfuration. Because these three processes are interconnected, the Methylation Panel is able to provide a complete picture regarding methylation status.
Defects in methylation have been associated with many clinical conditions including, but not limited to:
Autism
ADHD
Cardiovascular disease
Congenital and neural tube defects
Cognitive decline
Chronic fatigue
Depression
Cardiovascular disease
Parkinson’s
Schizophrenia
Methylation index (SAM/SAH Ratio)
Methylation balance ratio
Met/Sulf balance ratio
Betaine/Choline ratio
S-adenosylmethionine (SAM)
Methionine
Choline
Betaine
Serine
S-adenosylhomocysteine (SAH)
Dimethylglycine (DMG)
Sarcosine
Glycine
Cystathionine
Cyst(e)ine
Taurine
Homocysteine
Glutathione
ADD ON’s (SEEN ON SAMPLE REPORT)
The add-on package available with this test includes all of the following;
BHMT G742A –
Betaine-homocysteine S-methyltransferase
Betaine-homocysteine methyltransferase (BHMT) is the enzyme responsible for remethylation of homocysteine via an alternate pathway using betaine as a methyl donor.5 BHMT acts as a backup pathway to maintain SAM levels and is expressed primarily in the liver and kidney.6
CBS C699T
Cystathionine beta-synthase
The CBS enzyme is strongly regulated by the availability of SAM. Adequate SAM levels leads to an upregulation of the CBS enzyme, allowing homocysteine to be irreversibly committed to the transsulfuration pathway.
GNMT C1289T
Glycine N-methyltransferase
Glycine n-methyltransferase (GNMT) is an enzyme that plays a critical role in the disposal of excess s-adenosylmethionine (SAM), which is the body’s main methyl donor. GNMT removes methyl groups from SAM by conjugating them with glycine to form the byproduct sarcosine.
MAT1A D18777A
Methionine adenosyltransferase
Methionine adenosyltransferase (MAT) is the enzyme that catalyzes the conversion of methionine into the body’s main methyl donor, s-adenosylmethionine (SAM). This enzyme requires magnesium as a cofactor and is downregulated by oxidative stress, such as alcohol and free radical damage.
MTR A2756G
Methionine synthase
Methionine synthase (MS/MTR) is responsible for converting homocysteine back into methionine by using 5-MTHF as a methyl donor. This reaction requires zinc and active B-12 (methylcobalamin) as cofactors and is the main pathway responsible for homocysteine recycling in every cell.
MTRR A66G
Methionine synthase reductase
Methionine synthase reductase (MTRR) is an enzyme that works in cooperation with methionine synthase (MTR) by reducing oxidized forms of vitamin B-12 to be reused. This allows MTR to continue to convert homocysteine back into methionine.
SHMT1 C1240T
Serine hydroxymethyltransferase 1
Serine hydroxymethyltransferase 1 (SHMT) is responsible for maintaining a relative balance of folate groups between the methylation cycle and the folate cycle. It uses serine and glycine to exchange methyl groups between THF and 5,10-MTHF as needed.
MTHFR C677T
5,10-methylenetetrahydrofolate reductase
Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme which converts 5,10- methylenetetrahydrofolate to 5-methyltetrahydrofolate (5-MTHF). This step activates folate to be used for homocysteine (Hcy) conversion to methionine, instead of nucleotide synthesis.
MTHFR A129C
5,10-methylenetetrahydrofolate reductase
Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme which converts 5,10- methylenetetrahydrofolate to 5-methyltetrahydrofolate (5-MTHF). This step activates folate to be used for homocysteine conversion to methionine, instead of nucleotide synthesis.
COMT V158M
Catechol-O-methyltransferase
Catechol-O-Methyltransferase (COMT) is a key enzyme involved in the deactivation of catechol compounds, including catecholamines, catechol estrogens, catechol drugs such as L-DOPA, and various chemicals and toxins such as aryl hydrocarbons.
Blood sample requiring a blood draw.
Please freeze the gel brick provided overnight and take it with you to the blood draw appointment.
Once taken, the sample will require centrifuging within 10 minutes. Once the plasma has been separated and transferred, the neutral tube will need to be placed in the silver bag provided with the gel brick and returned to a freezer (within 45 minutes of blood draw). The sample then requires freezing overnight before shipping the following day, Monday to Thursday only.
A buccal swab is needed for the Add-ons
An overnight fast is required prior to the blood sample being taken.
Freezer required to freeze the gel brick provided for a minimum of 8 hours.
SAM-e supplementation and amino acid formulas may impact results.
Non essential vitamin supplements like vitamin B should be discontinued for 4 days prior to the test.
2 years and above.
Please return via a next day service Monday – Thursday only. A courier option is sent with your test kit. You pay the laboratory directly for this test and also the return courier if you use the service. You can also make your own arrangements for returning your samples via a next day service.
14 working days.
Your test results will be emailed to you.
All sample reports are for representational and educational purposes only. Biomarkers, references ranges, results, and all other data may differ from actual reports. All data included in no way represents an actual patient. Any comparisons of results to actual patients is completely incidental.
Updated April 2020
