Acetylcholine/Choline Deficiency in Chronic Illness – The Hunt for the Missing Egg

ucm278430We hear a lot about vitamins and minerals such as B12, folate, magnesium, vitamin C, and so on, but there seems very little talk these days on the importance of dietary lecithin and choline. Are you consuming an adequate amount of acetylcholine, or other phospholipids? The odds are that you are not.

A little bit about choline

The human body produces choline by methylation of phosphatidylethanolamine (from dietary sources such as lecithin and others) to form phosphatidylcholine in the liver by the PEMT enzyme. Phosphatidylcholine may also be consumed in the diet or by supplementation. Choline is oxidized to betaine which acts as an important methyl donor and osmolyte.

For those wanting to see how this relates to the methylation cycle, below is a nice graphic (courtesy of Wikipedia).

Choline metabolism

It is well known that magnesium deficiency is widespread (57% of the population does not meet the U.S. RDA according to the USDA), but the numbers for choline deficiency are even more shocking.
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Change Gene Expression and Increase Glutathione with Relaxation Techniques

meditation-pose1Managing stress with relaxation techniques such as meditation, yoga, or biofeedback are things we sometimes ignore when facing a chronic illness. After all, how much can these relaxation techniques really help? I know that question goes through my mind at times. Even though practicing relaxation techniques can feel like a waste of time, practicing them can actually turn genes on and off.

Relaxation techniques change your gene expression

Dr. Herbert Benson did a study comparing 16 people who have regularly evoked “the relaxation response” for an average of 9 years to 19 people that didn’t use these techniques.

The human body has about 30,000 genes. Dr. Benson’s experiment found that roughly 2,000 genes differed in expression between groups. Many genes that triggered inflammation and cell death were turned off in the group that regularly practiced relaxation techniques. However, this deactivation doesn’t appear to be permanent. The daily practice of relaxation techniques such as meditation is necessary to sustain benefits.

When controls were taught techniques to evoke the relaxation response, about 1,500 genes changed their expression within 8 weeks. These were many of the same genes seen in the group that have been practicing these relaxation techniques for years.

Are relaxation techniques really going to fix anything?

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Study Confirms CFS Patients Benefit from Folate

19518Folinic acid (a derivative of Folate) was found to be effective according to a study (PDF).

Folinic acid was used at 25 mg a day for 1-2 months. Because there was already an established association between ME/CFS and Folate deficiency, this study did not look at the folate status of their participants. Nevertheless, 81% of patients reported significant improvement in pain and energy level within these one to two months.

This level of improvement is significant for CFS because CFS patients don’t respond favorably to many treatments. Furthermore, contrary to popular belief, CFS patients of a low placebo-response rate at only 19.6% after meta-analysis.

This study also showed immune problems such as marked depletion of their CD19 B-Cell mature B-cell population. This comes as no surprise as this been replicated in many other studies.

This study that I am referencing was done in 2006. Since then, according to what’s indexed in PubMed, nobody has looked at folate in ME/CFS. No, this wasn’t a huge study with a huge number of participants, but the 81% response rate should prompt further research and studies.

You may be wondering: If this data isn’t new, why am I talking about it?

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Methylation Analysis with Automatic Personalized Interpretation Now Here

ggWe’ve been working hard.

Genetic Genie Methylation Analysis with personalized automated interpretation is now available. Some parts of the interpretation are not finished as of this post. We still have some content to change, and we have some custom diagrams to make/add, but it’s here!

You can view an example interpretation here.

If you already have 23andMe, just go to “Methylation Analysis” and upload your file again.

If you want to learn more about the 23andMe genetic testing service, check out 23andMe.com.

Comments, feedback, suggestions, and corrections are more than welcome. Genetic Genie has finished laying the foundation, and now we want this to be a community effort. This should get better and better as we go along if there is participation from the community.

For now, you can leave comments through Feedback or a comment on the blog post. But what would be best for the future? If we made the data an open, editable Wiki, would anybody want to participate in editing and adding content? I think this would be really cool if there are people who are actually interested in taking part in a community effort.

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We Are Hiring Writers that Understand Methylation and Detox SNPs


We are hiring a Medical Writer that understands Methylation and Detoxification SNPs for automated analysis. We prefer someone who has a degree, has helped patients, or has a medical practice.

This is a paid job. Please send me a message through the Feedback form or a message through our Facebook page if you are interested in this position.

Our Facebook page is: http://www.facebook.com/GeneticGenie

Alternatively, you can reach me (Kyle) by phone at:

Please don’t use this number for technical support. If you have technical support questions or any other questions please use the Feedback form.

Further details and compensation will be discussed after you contact me. Furthermore, if you are a practicing physician or health consultant, having your name on Genetic Genie can can you attract patients and/or clients.

We are no longer hiring, but if you are interested in a volunteer position involving writing about SNPs are blog posts, you can still contact us.

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Avoiding Chemicals in Foods on a Budget: The Dirty Dozen

fresh-produceIt’s no secret that our food contains pesticides that are really bad for our body. And it’s also no secret that many patients and families are flat out broke from trying to take care of medical expenses.

But when you are trying to optimize your detox and methylation, the food you eat is important. The U.S. Department of Agriculture found at least 1 pesticide of the 68 samples of conventional produce analyzed.

Pesticides cause brain and nervous system toxicity, cancer, hormone disruption, skin, eye, lung irritation, amongst other things. They are toxic by design.

But there are steps you can take to limit your exposure on a tight budget. The website ewg.com has a guide called EWG’s 2012 Shopper’s Guide to Pesticides in Produce™ that lists the “dirty dozen” conventional fruits and vegetables. Buy these Organic to limit exposure to harmful pesticides.

Here are the fruits and vegetables that made the “dirty dozen” list
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Why support methylation and detoxification? Our ancestors didn’t need to.

024_p3aWe live in a toxic world. We have an epidemic of auto-immune disease. We have an epidemic of Autism. We have more than 80,000 chemicals that are unregulated and have never been assessed for the potential negative impacts on human beings, animals, insects and the environment. And even the chemicals that have been well-studied are often very toxic to the human body. But we still use them. They may impact DNA methylation in a very negative way, cause endocrine disruption, immune dysregulation, alter receptor sites that are necessary for life, and cause cancer. These chemicals may kill animals such as frogs and bees at very low concentrations, but we ingest them, breath them, and let them seep transdermally through our skin.

I won’t even begin to name these chemicals, because there are way too many to name.

So, how do we avoid all these harmful chemicals?
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Think Supporting Methylation is an Alternative Health Fad?

b12vitaminScience goes a process of discovery and de-discovery (when a discovery is proven to be a false discovery). People and physicians also fail to remember that we also go through a process of rediscovery as well.

Independent researchers, doctors, and even patients are researching, writing articles, creating podcasts, and uploading their presentations to YouTube about MTHFR and methylation. But much if not most of their information is unpublished. Many of these people researching don’t even hold a degree in the field. So what happens when you start throwing acronyms such as methylation and MTHFR all over the place while looking at these seemingly overly complex diagrams? People, physicians, and even scientists may be quick to call this activity unscientific and alternative medicine quackery. Something that looks overly complicated (like quantum physics) that seems to have suddenly appear out of nowhere must fall in this category, right?

Welcome to the 21st century. When science doesn’t do their job or is underfunded, independent researchers, doctors, and patients will step up to the plate. Researching isn’t just for those sitting in their Ivory Tower anymore. It’s becoming hugely collaborative.

So let’s get to the point of this post

Think supporting your methylation cycle is some new alternative medicine fad? Think again.

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Mast Cell Activation Disorder (MCAD), Chronic Illness, and its Role in Methylation

mastcellWhat do chronic illnesses such as Autism, Chronic Fatigue Syndrome (CFS), Fibromyalgia Lupus, Chronic Lyme Disease, Interstitial Cystitis, Multiple Sclerosis, and more have in common? Well, these illnesses may have a lot of things in common, and a lot of overlapping symptoms, but many patients symptoms seem to be compatibled with Systemic Mast Cell Activation Disorder (MCAD).

So what is MCAD according to Mayo Clinic?

Systemic mastocytosis (mas-to-sy-TOE-sis) is a disorder caused by a genetic mutation that results in an excessive number of mast cells in your body. Mast cells normally help protect you from disease and aid in wound healing by releasing substances such as histamine and leukotrienes. But if you have systemic mastocytosis, excess mast cells can build up in your skin, around blood vessels, in your respiratory, gastrointestinal and urinary tracts, or in reproductive organs. When triggered, these mast cells release substances that can overwhelm your body and result in symptoms such as facial flushing, itching, a rapid heartbeat, abdominal cramps, lightheadedness or even loss of consciousness. Common triggers include alcohol, temperature changes, spicy foods and certain medications.


A Slightly Better List of Triggers

The following “triggers” may influence a mast cell response: drug abuse, excessive alcoho consumption, preservatives, stress, sunlight, environmental toxins, bacteria/fungi/mold, artificial colors or flavorings, heat/cold, etc. Minimizing your exposure to these triggers may help redcuce you mastocytosis risk.


I know for a fact that many have trouble with one, many, or perhaps all of these triggers. From that list, I know alcohol, stress, sunlight, bacteria, mold, heat, and cold trigger my symptoms. The only thing I haven’t noticed as a trigger are artificial colors or flavoring, but maybe I am not paying close attention. Spicy food, which is not on this list can be another trigger for MCAD.

Mayo Clinic had a decent list at symptoms associated with Systemic Mastocytosis, but let’s look a little more in-depth of symptoms, since Systemic Mastocytosis has many of them.

The U.K. NHS has a pretty good list. The symptoms are a bit scattered throughout the article, so I’ll modify it a bit to make one complete list.

A Relatively Complete List of Associated Symptoms
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Great MTHFR and Methylation Radio Podcasts from MTHFR Support

podcast-newMTHFR Support is doing a great job with their blogtalk radio programs discussing methylation. Recently, they have had some well known guests who study MTHFR and methylation on their show.

Their next show is on Wednesday January 30th. The link to it is below.

What IS MTHFR AND Other SNPs That Work With MTHFR 01/30 by Methylation and Gut Health | Blog Talk Radio.

Here is some of their previous episodes:
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