I've Got a Dirty Gene. Now What?

June 18, 2018

"...genetics loads the gun and environment pulls the trigger."


This quote has been attributed to Francis Sellers Collins, an American physician-geneticist who discovered the genes associated with a number of diseases and led the Human Genome Project. The basic meaning of his statement is that although we are genetically predisposed to particular dis-ease states or complications, we play an active role in whether or not these genes are turned on or off through our lifestyle choices and by the environments we are exposed to. 


About 5 years ago, Shea and I met someone who was embarking on something called biohacking. Through this friend we were exposed to Dave Asprey and some of his research and practices, and I quickly discovered that stopping the trigger, and perhaps even removing the bullets from the gun, is exactly what Dave (and our friend) were up to--with what they call biohacking. I want to share the intro to Dave's blog with you all because, well, it's simply worth sharing:


[If you’re like most people, you learned the same things I did growing up: you’re stuck with the brain you were born with, being skinny or fat is genetic, and performance is a matter of effort. Oh, and there’s nothing you can do about it.


I can tell you that none of that is true.


I’m Dave Asprey, CEO and Founder of Bulletproof and I’m a biohacker. 


Biohacking (verb, noun):

(v): changing your environment from the inside-out so you have full control of your biology; using your body as your personal laboratory, finding the exact hacks that work for you.

(n) The art and science of becoming superhuman.]


Like most people, I, too, once thought that I was merely a victim of my genetics. I didn't believe there was anything that could be done to stop whatever dis-eases were surely in my future based on my extended family's health history. But then I started reading, and reading, and reading. Over and again I read how people were reversing their autoimmune conditions and healing cancers and other traditionally chronic or deadly diseases. Each book I read or story I heard got me more curious, and pushed me deeper into researching. When we went gluten free after discovering our son's Celiac disease, some symptoms I'd dealt with for my entire adult life disappeared. Again, my curiosity grew.


Then, throughout the last few years, I experienced some bigger health hiccups. First, when my last child turned one I got a weird itchy and then extremely painful skin rash on the trunk of my body that lasted for months, and a tickling cough that also lasted for months with no other symptoms. I went to a local clinic to have the rash looked at finally, only to be (incorrectly) told that I likely had tuberculosis and needed to avoid contact with other life forms until my test could be confirmed negative in Iowa City. Needless to say, I did not have tuberculosis. However, the mystery of the rash and cough were never discovered at the time. I had decided to switch to a grain free diet after reading that perhaps it could help. Over the course of a few weeks, it did. Then, it was kidney stones (the kind that cause you to vacillate between throwing up and passing out and convince you to lay on an emergency room floor because the chance of catching ebola or some other funky hospital floor cootie seems well worth it compared to sitting upright for a second longer). And most recently I've experienced thyroid issues and intermittent joint issues, followed by some bizarre heart and nervous system symptoms. And I'm young. Just 33 years young this year. I knew there had to be explanations as to why my body appears to be going bonkers, and I refused to believe there was nothing I could do about it.

During my researching, the friend who I mentioned above had come into our lives, and the concept of biohacking has stuck with me. At my last visit with my primary care doctor in January, she recommended that I consider doing the 23andme DNA health test. It had been on my "bucket list" for awhile, but (to be honest) I didn't think I could justify spending the money. However, after she suggested it, I casually mentioned to my husband that if he ever needed a gift idea, this was something I think I'd like to do.


Mother's Day week I received the test :)

Then, this past week, I got my results back. I'll admit at first I was a bit disappointed because it didn't seem to say much in the health reports that come back with the results. I discovered I was 95.5% North European (no surprises there) and the only health reports that came back with information were 2 gene expressions that I had, one that was consistent in individuals with age related macular degeneration and the other in individuals with Celiac disease. Again, no surprises there. I already knew my eyes were failing me and cross contamination with gluten causes me to instantly become 6 months pregnant, not be able to bend my fingers, and to have irritable bowels for a week. Just as I was about to be really crabby for wasting the money, I figured out that I needed to download the "raw data" to get what I was looking for.

Normally someone would work with a practitioner or at least an analyzing company of some kind to sort it all out. But, when did I ever say I was normal? Slowly but surely I'm plugging my way through the seemingly endless list of gene expressions. It feels a bit like I'm trying to crack some secret code. The good news is I did have some priorities as far as what I wanted to figure out first. MTHFR was at the top of my list. Get ready for some science talk. If you hate science talk, skip the rest of this paragraph. I won't be offended. And I won't even know :) The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, which are the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the vitamin folate (also called vitamin B9). This reaction is required for a process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds. Without functional methylenetetrahydrofolate reductase, homocysteine cannot be converted to methionine. As a result, homocysteine builds up in the bloodstream, and the amount of methionine is reduced. 


To put it more plainly, the MTHFR gene produces the enzyme that is necessary for properly using vitamin B9 (folate). This enzyme is also important for converting homocysteine into methionine, which the body needs for proper metabolism and muscle growth and which is needed for glutathione creation. The process of methylation also involves the enzyme from the MTHFR gene, so those with a mutation may have trouble effectively eliminating toxins from the body.


I wish I could say that I discovered that gene was clean and there was no abnormality. But, that wasn't the case. Hello, my name is Ashley, and I have a dirty gene. The two most problematic mutations that can occur are C677T and A1298C, which denote the placement of the mutation on the gene. The most common forms of MTHFR mutation involve various combinations of these genes being passed on from each parent:


Homozygous: the same gene passed on from both parents (can occur if both pass on the 677 mutation, or the 1298 mutation)


Heterozygous: one parent passed on the 677 mutation or the 1298 mutation but the other parent passed on a normal gene


Compound Heterozygous: one parent passed on the 677 mutation and the other passed on the 1298 mutation

Thankfully, my A1298C gene was normal, but C677T was not. In fact, both of my parents handed me dirties (AA) on this one. This means that the processes which are effected by this gene are only functioning at 20-30% efficiency, which means this gene is going to need some help doing its job. That's where biohacking comes in. There are lifestyle factors that come into play that can fill the gap, so to speak, and help my body despite my genetic make up. There are practices that can be implemented, preventative care blood tests that can be regularly assessed, supplements that can be incorporated, a diet that can be followed, etc. All hope is not lost for my little mutant.


Next week I'm going to be sharing some of the specifics about how I plan to hack this dirty little gene. What about you? Have you done the 23andme thing? Did you discover you had any dirty genes of your own? I'd love to hear from you.

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June 18, 2019