I am a mostly retired Functional Medicine physician. I don’t seem to be retired from thinking about my health, our health and how to make what we know usable for everyday people. This is the third installment of my journey into stories about user friendly science and healthcare. Focus today is on genes versus toxins. Possible nerd alert. At this time in the story, I am in my 40’s and my medical practice is fully committed to Functional Medicine.
It took me a long time to make the connection between my reaction to various environmental exposures and my genes. It makes sense though. If a tiny spot on one gene determines what color eyes we have, and all it takes to make a whole baby is a DNA strand from the mother and father combining, we should probably be aware of what other clues genes can give us. I do like mystery analogies. I was raised on Sherlock Holmes, Nancy Drew and Trixie Beldon. Don’t worry if you haven’t heard of Trixie – only women born in the 50’s know about her.
I did know my entire life that the smell of most personal care products (shampoo, make up) and things like air fresheners and scented candles made me feel very badly. Even someone telling me they thought I had shaved my eyebrows because they were so light colored could not push me to use make up. I did just see an article about a new trend with shaved eyebrows, but this was a long time ago and it wasn’t a compliment. To this day, my biggest concern about going to an AirB&B or a hotel is what kinds of scents will be lurking there. So, what is the science behind that? My beloved chemistry tells us that to get the chemicals that make up those scents (more on this) out of the body, our genes must turn on the process of methylation. A methyl group is just one carbon molecule with 3 hydrogens attached (sounds simple, right?). Special proteins attach this methyl blob to the molecule that needs to be removed. Then the liver and kidneys send it to the poop or the pee and out it goes. You guessed it – I don’t methylate worth a darn and my genes proved it. Another helpful clue was a blood test called homocysteine that can be done at most labs. It is a helpful marker to see how well we methylate. It goes up when we do not have enough methyl B12 or methyl folate (B9). Elevated homocysteine is a significant risk factor for cardiovascular disease. I was very surprised when mine came back elevated at 14 in my mid 40’s. Think of homocysteine and all these other molecules that can’t get out as biological garbage causing direct damage to cells and blood vessels.
It is also not good to have an abnormal CBS gene as this acts as a big drain for all the detox nutrients and you need extra of everything. If you have a friend who swears by the pile of supplements they take, they probably have an abnormal CBS gene and have discovered by trial and error what makes them feel better. People like this love Functional Medicine because we can make the mysteries of why on earth? into actual science! I had the privilege of working with many such people and making us all feel much less crazy.
Other genes that affect our toxin (garbage) levels are what we call the detox genes. These are genes that influence how much glutathione we make, how well we get rid of certain medications and a variety of toxins. Glutathione is an antioxidant and oversees most toxin/garbage removal. We make less of it as we age, and loss of glutathione is thought to be one of the major changes of aging. Although it is possible to support glutathione levels with supplementation of NAC or liposomal glutathione, it is very important to decrease toxin load our entire life to prolong our own natural supply.
So how can a person find out about their genes? I am mostly familiar with the test panels from Genetic Genie for Detox and Methylation. Genetic Genie is a non-profit organization that provides free analysis of raw DNA data. The data must come from 23andme.com (any Health panel which is not free) and be downloaded to your computer before you can submit it to Genetic Genie. The methylation panel includes the better known MTHFR gene variation as well as several others than affect methylation just as much. The Genetic Genie Detox panel includes information about genes that influence glutathione levels and much more. You must order a 23andme test that has Health in the title. They are usually significantly discounted at the holidays (right now!). 23andme has very good information to help you decide if this test is for you, but it does not discuss sending your data onto Genetic Genie. That transfer of data takes place on the Genetic Genie website with your permission.
I suggest you have a Functional Medicine or Naturopathic practitioner who is familiar with the Genetic Genie test go over it with you so the results can be useful rather than scary or overwhelming. It is possible to look for research on individual genes using the rsID number included on the Genetic Genie report. The rsID number is a unique label used by researchers to identify a specific gene abnormality (also called a SNP or Single Nucleotide Polymorphism). Researching a gene by rs number is kind of geeky and not for everyone.
I recently listened to a podcast about toxin load being significantly raised by artificial scents in our environment. This makes it clear how my own sensitivity to artificial scents is connected to my genetic problems with methylation and making glutathione. This excellent interview is with Dr. Yvonne Burkart on the Dhru Purohit Podcast from October 23, 2023. She blows the whistle on parabens, phthalates and the ingredient listing “natural flavors” in foods, as these toxins accumulate, make us sick and age us. A recent study on actual humans connected these chemicals to negative changes in genes governing risk for breast cancer in a short period of time! Some of the biggest offenders at sneaking these toxic chemicals into our bodies are personal care products, artificial scents and the many chemicals that hide behind the label “natural flavor” in many food products. The labeling laws allow a wide range of toxic and artificial molecules to be included under this phrase. I consider myself savvy at choosing healthy foods, but a couple of items snuck by with this labeling in my own refrigerator. Bees wax candles do not contain these ingredients usually so go for these if you need to light your table this holiday season.
One last bit of info on genes: Since it was my husbands’ gluten reaction that opened this door – let’s look at gluten genes. At the spot on the gene (DNA double helix) for gluten there are three choices that we know about: digest gluten without problem, celiac, or gluten sensitivity. With testing (more in a minute), I learned that I have one gene for celiac disease and one gene for gluten sensitivity. Other tests for celiac disease were all negative but there are no other tests for gluten sensitivity. Another amazing difference between the two gene variations is that celiac genes can clearly turn on an autoimmune disease and gluten sensitivity genes are associated with depression, anxiety and other brain issues. Gluten sensitivity has received much less attention as there is no blood test to tell us if the gene has turned on or not. The only way I know to test for it is to order the EnteroLab.com Gene test for gluten sensitivity. This is not one of their panels or a stool test. Find it at the bottom right of the test listngs. It will tell you if you have celiac or gluten sensitivity genes. We are also ignorant about how to turn genes off – I hope we get to find out in the future!
One of my Functional Medicine colleagues suggested that I go off gluten completely and see what I noticed. Since I wasn’t eating gluten at home that was not too hard. My discovery was that a 100% restric6on had a big effect. My energy improved, I stopped having episodes of unexplained low-grade depression and my episodic diarrhea resolved. Those were all big quality of life issues, and I took serious note. At some point a couple of years later I accidentally had a gluten exposure and was horrified to have suicidal thoughts about 12 hours later with absolutely no reason. I had a colleague with gluten sensitivity genes and asked her if anything like that had ever happened to her and she said – absolutely! Another piece of confirmation that this was a genetic issue came from my mom. I obviously had received one of those two gluten genes from her, and she had lifelong bouts of depression that came and went erratically. Fortunately, she never developed celiac disease which has more serious implications.
Dr Alex Fasano is an Italian physician who is the leading researcher in this area. In Italy, children are tested at birth for their gluten gene variants and can avoid gluten from birth. Here, it is a big surprise when someone has celiac disease, but Italian physicians understand how to see it coming and prevent it. What a concept. Hopefully AI won’t be completely evil and could help us understand our genes from early in life. I’m not a complete cynic yet.
One last thought – feel free to come back to this when you have time and pick just one thing to investigate. This writing is intended as a reference rather than a “to do” list. As Jackson Brown sings: “don’t let the uncertainty turn you around, go on and make a joyful sound”.
I hope this finds each of you with a little time to appreciate yourself, those you are close to, and the amazing planet we live on. Gratitude may be the best kind of candle yet.
Sincerely,
Gail Rankin, MD
December 2023
Visit www.fimmccall.com for more functional medicine information and educational resources.