Last Updated on 7 September 2024 by Brisbane Livewell Clinic
How Methylation Testing Can Help You Improve Your Health
Methylation testing has become a popular choice for health enthusiasts in recent times. DNA Methylation is well recognised in the scientific literature and with information about its significance now reaching the general public, the conversation about DNA testing and methylation is in full swing.
While much of the scientific focus is complex, gaining an insight into our health and disease potential is becoming a lot easier with the types of testing on offer helping to explore both our DNA and methylation.
For anyone interested in methylation, it’s a good idea to have a general understanding of what’s involved in the different types of tests on offer, and get to know some of the basics around methylation to gain the most out of test results.
Book a Consultation with our Naturopaths today to discuss whether you should get DNA Methylation Testing.
What is Methylation?
Methylation occurs every second of life in every cell, (1) and is responsible for making, maintaining and repairing DNA (2) Methylation is the process of transferring methyl groups (CH3) to DNA. (2) The process of this addition of the methyl group to DNA is known as DNA methylation. (3) DNA repair, protein function, and gene expression all involve methylation. (4)
Aside from the action on DNA, methylation is a universal biochemical process which adds methyl groups to a variety of other molecular targets, including neurotransmitters, lipids and proteins. (4)
Why Methylation is important to health
Methylation is essential to life. The methylation cycle is one of the most important and commonly occurring influences on epigenetics – the science of what occurs “on the top of” genes. (1) Abnormal patterns of methylation have been liked to several human diseases including: (2)(5)(6)(7)(8)(9)(10)
- cardiovascular disease
- autoimmune disorders
- various cancers
- metabolic disorders
- psychological disorders
- neurological disorders
- allergies
- infertility
- miscarriage
- risk of spina bifida
Methylation Testing Options
Methylation Testing can essentially be divided into 2 parts:
- DNA Methylation Testing
- Nutrient Testing for Methylation
1. DNA Methylation Testing
DNA methylation testing reports on the genes involved in methylation. The MTHFR genotype is the most commonly tested and well recognised aspect of how gene variations influence methylation. Statistics indicate that those expressing methylenetetrahydrofolatereductase (MTHFR) polymorphism is approximately 40% of the global population. (11)
More advanced and thorough screening involves reporting on several other genes associated with methylation, including the COMT, MTRR, MTR and AHCY methylation genes.
When it comes to genetics as a whole, the role of methylation is significant, since in DNA, methylation can alter gene expression, essentially turning a gene ‘on’ or ‘off’.
2. Nutrient Testing for Methylation
Nutrient testing for methylation assesses the cofactors involved in the methylation cycle. Comprehensively testing methylation nutrients offers a complete and personalised report of methylation status.
Applying the knowledge about our DNA methylation genes, which don’t change, with this type of testing also helps to gain a clear and precise understanding of therapeutic nutrient requirements, which can change over time.
While not always necessary, its worth considering testing for the nutrients associated with methylation alongside knowing your genotype. Based on this extra reporting, your clinician can design a holistic strategy based on what your body presently requires to support this vital process.
Call and ask our friendly Reception staff about Nutrient Testing for Methylation on (07) 3861 5881 or book your DNA Methylation Consultation Package today.
What Does DNA Testing Involve?
DNA testing offers a non-invasive option known as a buccal swab, or buccal smear. This method simply involves swabbing inside the mouth, to obtain a sample of cells from the mucosa around the inside of the cheek.
DNA Methylation Testing and the myDNA Comprehensive Health Report
Our Naturopaths use the myDNA Test (with Methylation), and as part of this, you will receive the Nutripath myDNA Comprehensive Health Report. This Report includes a dedicated section on methylation genes and their variations, which are known as single nucleotide polymorphisms (SNPs). The impact of these SNPs is expanded on across several other sections of the Report, including micronutrient requirements, mental health and cognitive performance, detoxification and cardiovascular health.
The Comprehensive Health Report is designed to highlight strengths, focus on weaknesses, and show the potential disease patterns which can be influenced by multiple genes. Methylation is considered a highly significant factor when it comes to all of these aspects.
The myDNA Comprehensive Health Report categorises the genes tested specific to methylation to include:
- MTHFR
- MTR
- MTRR
- COMT
- DHFR
- MTHFD1
- CBS
- PEMT
There are several genes involved in methylation, with many steps and contributing factors involved in the process.
Spotlight on the MTHFR Gene
The MTHFR gene has becoming a popular health topic due to the major role it plays in methylation and the consequence of gene variations. A person with polymorphic MTHFR enzyme (SNP) may function with approximately 55% to 70% methylation efficiency as compared to a normal MTHFR enzyme. This polymorphism is associated with reduced specific activity of MTHFR, resulting in a residual enzyme activity of 65% for heterozygous (single polymorphism) carriers and only 30% for homozygous (double polymorphism) carriers. (11)
For many people, this data from the MTHFR Gene is the motivation to get tested to understand any inherited genetic weaknesses around methylation and how it may impact on their health.
Learn More About Methylation Nutrient Testing
Blood tests are the only option available for methylation nutrient testing, with the exception of urinary Organic Acids Testing (OATS) which only provides limited information. Essentially methylation pathways are assessed, based on the nutrients and steps involved in the methylation cycle.
There are a number of labs (requiring practitioner authorisation) which offer some or all of the tests below, with NutriPath offering a Methylation Profile, Folate Metabolism Profile or Methionine Metabolism Profile to choose from, based on the needs of the patient.
Samples are best done in a fasted state, and in the lead up to testing, supplementation of methylating nutrients (especially B vitamins) is best avoided.
Typically a Methylation Pathways assessment involves testing for a combination of the following: (1)(2)
- Homocysteine
- Red cell Folate
- Vitamin B12
- S-adenosyl methionine (SAMe)
- S-adenosyl homocysteine (SAH)
- SAMe:SAH ratio
- Methionine
- Folinic acid
- 5-methyl tetrahydrofolate (5MTHF)
- Tetrahydrofolate (THF)
- Vitamin B6
- Histamine
- Glutathione
- Organic Acids: Formiminoglutamic acid (FIGLU) and Methylmalonic acid (MMA)
Options for assessing methylation pathways can also be as basic as getting blood tests like Red cell Folate, Vitamin B12 and Homocysteine with your GP.
Highlighting Homocysteine
Homocysteine is the most recognised marker clinically when it comes to poor methylation status. Deficiency in the nutrients involved in methylation – B6, folic acid and B12 have all been implicated in elevated homocysteine and subsequent cardiovascular risk. (12)
Prolonged exposure to high homocysteine levels can damage the blood vessels, contribute to blood clots, and lead to the onset of cardiovascular disease, including atherosclerosis, stroke, and inflammatory syndromes as well as neuronal pathologies. (11) Elevated homocysteine stimulates pro-inflammatory pathways which is thought to induce atherosclerosis via oxidative stress and methylation modification. (12)
Figuring out Folate
The advantage of testing DNA alongside testing essential methylation nutrients like folate is to rate the genetically inherited risk of synthetic folic acid ingestion to health. Many over the counter supplements contain synthetic folic acid, while many high quality practitioner-only products contain natural or ‘activated’ forms of folate (as folinic acid or 5-methylfolate).
Folate plays a crucial role in methylation. Natural or synthetic folates must be converted to the circulating form 5-MTHF to be utilised. Metabolising and reducing folate to 5-MTHF uses a multistep enzymatic conversion. Problems arise when an accumulation of un-metabolised synthetic folic acid competes with natural folate (5-MTHF) for the folate transporter and the folate receptor, thus depleting active folate for participation in methylation cycles. The limited conversion of folic acid when there are gene SNPs may jeopardise folate availability and increase the risk of adverse health outcomes. (11)
When to Pursue Methylation Testing
Generally speaking, testing for DNA is a good place to start. If a genetic weakness in methylation is identified, then further testing for methylation nutrients is an option that will also make sense in the context of the various methylation genotypes.
Methylation is relevant to any person and anyone can opt for DNA testing to better understand their health and disease risk, whether its looking at results through a preventative lens, for inspiration about pursuing longevity or to look at strategic ways to address current health concerns.
A primary focus on methylation is also a good idea for several types of patient, from preconception care to slowing the ageing process and in different life phases including children, young adults, and older adults.
1. Children
Children with psychological and neurological disorders, especially those with developmental disorders such as Autism Spectrum Disorder (ASD) and ADD/ADHD who would benefit from methylation support are well suited to testing as regulation of DNA methylation is essential for normal cognitive function. When DNA methylation is altered by developmental mutations or environmental risk factors, such as drug exposure and neural injury, mental impairment is a common side effect. (13)
2. Young adults
Young adults who are dedicated to their health and wellness can benefit from DNA testing to develop preventative strategies and understand their health needs better. Fertility and preconception care is also highly relevant in this phase of life, with a significant proportion of research involving DNA methylation focused on fertility. Many studies show a direct link between optimising fertility via addressing methylation.
3. Male Fertility
DNA methylation plays a critical role during spermatogenesis (sperm production), with several methylation genes implicated, while the findings show that the MTHFR gene can potentially be used as a diagnostic tool to predict the risk of both male infertility and male infertility-related diseases. (14)
When it comes to methylation, the influence of diet and lifestyle change cannot be underestimated. A study on the practice of yoga in infertile males reported DNA methylation changes at nearly 400 genes, suggesting a link between positive lifestyle practices and male reproductive health. (14)
4. Female Fertility
The role of DNA methylation alterations that negatively impact reproductive potential include endometriosis, PCOS, and obesity. (15) Older women with a natural decline in ovarian function can also show DNA methylation abnormalities that result in significantly lower gene expression than young women. (15)
Women may choose to seek out DNA testing during their preconception care phase to help to personalise their prenatal vitamins. From the report, the best type of folate to suit their genotype can be advised, as well as identifying individual demands for other essential nutrients such as choline and omega-3.
5. Older adults
As we age, the focus on health shifts to maintaining a good quality of life. It’s also a time when specific concerns may start to arise such as cardiovascular health issues, often in relation to high homocysteine levels from poor methylation.
Recent research suggests that epigenetics, especially DNA methylation, plays a mechanistic role in ageing (16) so it makes sense to address inherited weaknesses at this stage of life.
Making the Most of Methylation Test Results
Reviewing methylation is a practical way to offer solutions unique to your health needs. Identifying genotypes is always a good start, but it is important to remember that methylation disorders have both genetic and lifestyle causes. When common genetic polymorphisms are identified, they have also evolved from toxin overexposure, poor sleep hygiene, stress, medications, poor diet, and lack of exercise and fitness. (1)
Naturopathy employs methods to prevent or relieve various diseases regulated by environmental factors, and with the addition of DNA testing, Naturopaths are best equipped to tailor a diet and lifestyle routine and supplement suggestions that best suits the genotype.
It’s all about making the most of our health and the information we can gather about it, because as the saying goes, Knowledge is Power!
References
1. Hechtman, Leah. Advanced Clinical Naturopathic Medicine, Volume 2. Available from: VitalSource Bookshelf, Elsevier Australia, 2020.
2. http://nutripath.com.au/wp-content/uploads/2014/09/NP-NEW-TestFlyerA4-METHYLATION-Tests-v1.0.pdf
3. Kandi V, Vadakedath S. Effect of DNA Methylation in Various Diseases and the Probable Protective Role of Nutrition: A Mini-Review. Cureus. 2015 Aug 24;7(8):e309. doi: 10.7759/cureus.309. PMID: 26430583; PMCID: PMC4582005. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582005/
4. Menezo Y, Clement P, Clement A, Elder K. Methylation: An Ineluctable Biochemical and Physiological Process Essential to the Transmission of Life. Int J Mol Sci. 2020 Dec 7;21(23):9311. doi: 10.3390/ijms21239311. PMID: 33297303; PMCID: PMC7730869.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7730869
5. Phillips, T. (2008) The role of methylation in gene expression. Nature Education 1(1):116
https://www.nature.com/scitable/topicpage/the-role-of-methylation-in-gene-expression-1070
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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8126218
8. Jin Z, Liu Y. DNA methylation in human diseases. Genes Dis. 2018 Jan 31;5(1):1-8. doi: 10.1016/j.gendis.2018.01.002. PMID: 30258928; PMCID: PMC6147084.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6147084
9. Martinez CA, Northrup H, Lin JI, Morrison AC, Fletcher JM, Tyerman GH, Au KS. Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. Am J Obstet Gynecol. 2009 Oct;201(4):394.e1-11. doi: 10.1016/j.ajog.2009.06.042. Epub 2009 Aug 15. PMID: 19683694; PMCID: PMC2790326. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790326/
10. Zhu Y, Wu T, Ye L, Li G, Zeng Y, Zhang Y. Prevalent genotypes of methylenetetrahydrofolate reductase (MTHFR) in recurrent miscarriage and recurrent implantation failure. J Assist Reprod Genet. 2018 Aug;35(8):1437-1442. doi: 10.1007/s10815-018-1205-6. Epub 2018 May 21. PMID: 29785531; PMCID: PMC6086799.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086799
11. Carboni L. Active Folate Versus Folic Acid: The Role of 5-MTHF (Methylfolate) in Human Health. Integr Med (Encinitas). 2022 Jul;21(3):36-41. PMID: 35999905; PMCID: PMC9380836.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9380836/
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14. Rotondo JC, Lanzillotti C, Mazziotta C, Tognon M, Martini F. Epigenetics of Male Infertility: The Role of DNA Methylation. Front Cell Dev Biol. 2021 Jul 22;9:689624. doi: 10.3389/fcell.2021.689624. PMID: 34368137; PMCID: PMC8339558. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8339558/
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