The most practical way to check for problems with methylation is to arrange to have the following tests. In Australia, you need to work with a GP to get a referral for your blood tests. If you’re seeing a practitioner for other health issues such as inflammation, gut, hormonal or autoimmune issues, they will most likely want to request other special blood tests as well. If you’ve been particularly stressed checking your cortisol levels and inflammatory markers can also be useful.
The following tests help identify methylation issues:
- Checking your homocysteine level – this is a blood test that can be done at a regular lab.
- Additionally, blood tests to check your B12, and folate levels. If you’re working with a practitioner
- Your DNA so that you can ascertain any methylation SNPs particularly C677T and A1298C. – this is a saliva test you do at home you can order through independent labs including Smart DNA (Australia), Genova and 23ANDME Most of these companies then also provide you with a report.
- You can also have your urine sulfur level checked – your methylation practitioner will be able to guide you on how to do this.
If your homocysteine level is higher than 7, then your methylation practitioner will guide you to start taking methyl-folate, along with other important B vitamins in the methylation cycle, starting with low dosages.
Each person’s body responds differently in a methylation cycle
Each person’s body responds differently as the methylation cycle optimizes, so it is important to go slowly so that you can find out how your body will respond and address any adjustments that need to be made.
The labs will provide you with what is called your “raw data,” a number/letter listing of your genes. There are programs (listed below) that can help you compare your results to a typical human genome and identify where you differ. The differences you find are genetic variations. A SNP is the most common type of genetic variation among people. These gene variations—and each of us has several—can impact your health in different ways.
The gold standard is to work with an experienced MTHFR practitioner to determine an effective course of action for your unique genetic makeup Dr. Lynch’s site MTHFR has an extensive list of trained MTHFR and methylation docs. If you’re “stuck” on a health issue, these are the people who know how to hack it.
I recommend reviewing your results with a knowledgable practitioner before jumping to scary conclusions or jumping onto the high dose supplement bandwagon.
It’s very important to remember that the presence of an MTHFR SNP does not mean you are automatically at risk for any of the symptoms or conditions I’ve mentioned in this series of blogs, and it does not automatically mean you need supplementation to offset the potential risks.
That’s all they are: potential risks.
The presence of the gene alone doesn’t mean that the enzyme won’t function well. It can’t tell whether you personally are methylating well or poorly, for example, and whether you personally need additional support.
Some people find that kickstarting their methylation process after a lifetime of my body compensating for this under-functioning system is not without risk. They can be thrown into instant detoxification, and the initial effects can be intense. Consequently, the process can require a professionally guided trial and error to find a personalized supplement dose before the methylation pathways are again operating correctly. So be sure to investigate and treat this only under the guidance of a practitioner who knows about methylation.
Excess supplementation also has its own risks! So make sure you are well-read and well informed before embarking down the methylation track.
Most practitioners will check for the MTHFR A1298C and C677T SNPs themselves, along with testing for elevated homocysteine, and B12 deficiency. I tend to recommend that the following people would benefit from being specifically tested:
- Any patients with symptoms or a personal or family medical history that could be attributed to an MTHFR SNP, i.e., depression, heart disease, stroke, children born with neural tube defects, and any of the symptoms/conditions I’ve mentioned previously.
- All women of childbearing age and specifically, all women trying to conceive,
- Women who have had a prior child with MTHFR-related birth defects or behavioral challenges or autism.
- Children with behavioral challenges or on the autistic spectrum (I check for SNPs, B12 levels, and elevated homocysteine).
So, You’ve Been Tested Now What?
If you’ve gotten tested and discovered that you have an MTHFR SNP and now you wonder what you should do. First – don’t panic! For one, just having the SNP doesn’t mean it’s all gloom or doom, and if you do have the SNP there are things you can do to protect your health. Please have a read of these blogs
Should I be Freaking Out About my Genes?
Epigenetics End Concerns About Genetic Predispositions
Wondering Why So Many Kids and Adults Have Health Problems?
Methyl-folate is a key player in methylation, the process of adding a methyl group to a compound. Speak to your practitioner about which type of supplement (an activated B vitamin that’s easily absorbed) is best for you and how often you would need to take it. I love Ben Lynch’s “Seeking Health” products and find this product works well Active B 12 with L-5-MTHF, however, speak to your practitioner as some people need to start slowly.
Alternatively, you can get tested or start with reading his book Dirty Genes.
Make sure you when you’re taking your supplements for methylation that you also get adequate amounts of magnesium and zinc, which support methylation. In fact, there are many integral steps to boost your methylation so please print off the blog How To Improve Methylation.
Where To From Here?
It can seem complex, but it can pay off to address methylation in terms of your short and long term health. I’ve seen it make a difference for my patients, and I want that for you too.
Working with a practitioner who understands methylation and how to address it appropriately can make all the difference. For some people, methylation can be optimized in a matter of weeks or months. For others, it can take years. And when everything falls into place, wow, how exciting and how much of a difference it can make in getting you back to feeling well.
Resources:
Trimmer EE1.Methylenetetrahydrofolate reductase: biochemical characterization and medical significance.Curr Pharm Des. 2013;19(14):2574-93.
Sibani S1, Christensen B,Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.Hum Mutat. 2000;15(3):280-7.
Dirty Genes. Dr Ben Lynch. Harper Collins 2018
Melissa Conerly, William M. Grady. Insights into the role of DNA methylation in disease through the use of mouse models
Disease Models & Mechanisms 2010 3: 290-297;
Keith D. Robertson DNA methylation and human disease Nature Reviews Genetics volume 6, pages597–610(2005) 01 August 2005
Arthur Urbano,1 Jim Smith,1 Robert J. Weeks,1,* and Aniruddha Chatterjee1,2,* Gene-Specific Targeting of DNA Methylation in the Mammalian Genome
Cancers (Basel). 2019 Oct; 11(10): 1515.
Chatterjee A., Rodger E.J., Eccles M.R. Epigenetic drivers of tumourigenesis and cancer metastasis. Semin. Cancer Biol. 2018;51:149–159. doi: 10.1016/j.semcancer.2017.08.004
Jin Z., Liu Y. DNA methylation in human diseases. Genes Dis. 2018;5:1–8. doi: 10.1016/j.gendis.2018.01.002.
Richardson B1DNA methylation and autoimmune disease. Clin Immunol. 2003 Oct;109(1):72-9.
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