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When and how to test for methylation defects

Updated on September 12, 2014

Introduction to Methylation

Methylation is a process that all our bodies go through. It's an important part of the body's process of not only controlling and producing hormones and neurotransmitters but also detoxification. For some though methylation can be thrown off due to genetic mutations. It can in rare circumstances be thrown off if the circumstances are right. For those with methylation defects it can often cause or exacerbate a number of conditions ranging from heart problems, autism, chronic fatigue syndrome, metabolic syndrome, hypothyroidism.

There are related genes that can also affect methylation which also need to be addressed as well. Currently mthfr, methylation defects are controversial and not well studied. Only a select few know how to treat methylation issues but the number is increasing. Mostly doctors are aware of it but not to knowledgeable about it. I hope with this article I can spread some help, introduce people to methylation defects not only for doctors but patients (which is how I came to know about this).

Methylation and autism

how Methylation and Autism are connected

One of the most well known Autism and methylation researchers is Amy Yasko. She has published books, articles, developed tests, and studies and researches methylation and autism. It was found out by Amy Yasko the connection between autism and methylation and how improved methylation can improve the outcome of a child with autism.

Even for someone not affected by Autism the research done on autism and methylation can help out those with mthfr genetic defects. Amy yasko is one of the most well known methylation experts out there. Her genetic panel and consultations can be expensive though which is why I would recommend a 23andme test. It has been theorized that treating methylation will improve the outcome of someone with autism and even possibly that methylation defects are caused by methylation defects. For whatever reason though, it has been documented and shown to help with autism and a number of other disorders, conditions and diseases. Methylation and autism together a complex puzzle and that is why I would suggest checking out Amy Yasko's website.

The Bulletproof Diet: Lose up to a Pound a Day, Reclaim Energy and Focus, Upgrade Your Life by Dave Asprey

The Bulletproof Diet: Lose Up to a Pound a Day, Reclaim Energy and Focus, Upgrade Your Life
The Bulletproof Diet: Lose Up to a Pound a Day, Reclaim Energy and Focus, Upgrade Your Life

The revolutionary biohacking plan to lose up to a pound a day, regain energy and focus, and upgrade your life!

In his mid-20s, Dave Asprey was a successful Silicon Valley multi-millionaire. He also weighed 300 pounds, despite the fact that he was doing what doctors recommended: eating 1,800 calories a day and working out 90 minutes a day, six times a week.

When his excess fat started causing brain fog and food cravings sapped his energy and willpower, Asprey turned to the same hacking techniques that made his fortune to "hack" his own biology, investing more than $300,000 and 15 years to uncover what was hindering his energy, performance, appearance, and happiness. From private brain EEG facilities to remote monasteries in Tibet, through radioactive brain scans, blood chemistry work, nervous system testing and more, he explored traditional and alternative technologies to reach his physical and mental prime. The result? The Bulletproof Diet, an anti-inflammatory program for hunger-free, rapid weight loss and peak performance.

The Bulletproof Diet will change what you think you know about weight loss and wellness. You will skip breakfast, stop counting calories, eat a high-fat diet, work out and sleep less, and handle stress with ease. By ditching traditional "diet" thinking, Asprey has maintained a 100-pound weight loss, increased his IQ, and reached a level of health that seemed unattainable. His 40s are truly better than his 20s, and The Bulletproof Diet brings his best hacks to the masses.


Methylation poll

Could It Be B12?: An Epidemic of Misdiagnoses
Could It Be B12?: An Epidemic of Misdiagnoses

While more on the topic of B12, it helps explain B12 deficiency (which happens often in methylation defects)


Have you heard of methylation or methylation defects?

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When to test for methylation defects

Methylation defects and cause lots of problems, and they can happen at any moment in time. In the past before modern society, even those with methylation defects didn't have to worry as much. Now with modern society brings a lot of chemical/metal exposure, stress, sleep deprivation, improper diet, can all cause methylation defects to cause havoc on your body. It is generally thought that they come about during times of stress or even when affilicted with a health problem. In my case I found out about it when dieting, and through stressful times.

Someone with methylation defects will have a hard time maintaining and losing weight if methylation doesn't work. As you can see in the image I attached there are a number of conditions that are caused or exacerbated by methylation defects. Since it is genetic if there is any incidence of heart disease, mental illness, hypothyroidism, or cancer it would be important to test as soon as possible. Also if you have a sudden or gradual change in health, mood, emotional state, mental state (such as brain fog) it would also be a good idea to get tested as well. If you are having trouble losing weight or dealing with a persistent health issue it would also be a good idea as well.

Also if you have apparently unexplained symptoms or conditions it would be a good idea as well. If you do test for methylation defects and find that you do have some it would be a good idea to get relatives tested as well. It is important to test for methylation defects when symptoms start to appear, so that they can be fixed as soon as possible. Not all defects may be affecting your methylation or body, some genes or SNPs (single nucleotide polymorphisms) not be expressing at all.

Methyl Magic: Maximum Health Through Methylation
Methyl Magic: Maximum Health Through Methylation

While a bit dated and is a health/diet book, it does explain methylation.


How to treat methylation defects

Treating methylation defects can be a long and complex process. It isn't something that should be done alone either. It's important to find someone that knows how to treat methylation defects as methylation specialists are a bit of a rarity. Most conventional doctors will not know how to treat methylation defects properly, and may just prescribe methylfolate, methyl b-12s and some vitamins. It is a lot more complex and can take a lot longer depending on a number of factors. First off it would be a good idea to get tested to know what genes you carry and may be expressing, the best option I've found is the 23andMe test which is commercially available to anyone. I

It is important to get enough sleep as well which I would recommend at least 9-10 hours, more then usually recommended but I find extra sleep never hurts anyone and can offer great benefits. Digestion is another part that would need to be fixed and addressed, especially since you may need to take some supplements and they will need to be well absorbed. A lot of digestive issues can be fixed by going on a GAPS/paleo diet, GAPs if digestion is worse and depending on genes a low thiols/sulfur and low ammonia diet may be necessary as well. Managing stress, by minimizing it, engaging in yoga, meditation and daily activity can help a lot as well. It's important to get the basics down first before implementing other therapies and supplements and to improve chances of success with treatments.

After getting tested, preferably through 23andme, its important to find someone that knows how to treat methylation defects and analyze genetic tests as well. The free option is by using the raw data from your 23andMe test and uploading it to two different analysis at, it will allow you to save and print off the analysis. An option that I would recommend is to also contact Sterling Hill who can be contacted at, she is the administrator of Sterling Hill can also help provide training for your current physician or you can find a physician through the website.

The Methylation Miracle: Unleashing Your Body's Natural Source of SAM-e
The Methylation Miracle: Unleashing Your Body's Natural Source of SAM-e

This book could help with methylation and help explain some problems as well.


Finding proper treatment for MTHFR and SNPs involved with methylation and detoxifaction

Finding proper treatment for methylation and detoxification defects can be difficult. Depending on the genes and SNPs you have you may need to be treated properly, and everyone should be treated on an individual basis. Often you may need to go to more than one doctor and may require counseling dealing with all the mental and emotional problems that are often associated with MTHFR and related snps and genes.

Finding a functional medicine practitioner or naturopath that will think outside the box some may be of some help. Many doctors claim to know how to treat MTHFR but know very little about actually treating these complex health issues.

Here is a list of practitioners or websites that know how to treat methylation defects, not a complete list but ones I find helpful and most of these have lots of resources/links as well:

MTHFR.NetDr Ben Lynch

MTHFRSupport Sterling Hill and Dr Tim Jackson Dr Amy Yasko's website

Insight naturopathy facebook Helen Janneson Bense's facebook page/insight naturopathy

Functional Medicine website Functional medicine practitioners/doctors

Paleo Physicians Network Doctors and physicians that help treat problems using the paleo approach as well as natural methods, this is how I found a doctor who has helped a lot.

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    • SusanDeppner profile image

      Susan Deppner 

      5 years ago from Arkansas USA

      First time I've heard about methylation. Interesting topic.


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