INTRODUCTION
March 3, 2024 - Dr. Roberta Kline (Functional Genomics Specialist) delivered the first presentation of its class - aligning clinical Genetic Testing and Endometriosis at the 15th Annual Patient Symposium of the Endometriosis Foundation of America (also known as ‘EndoFound’). Her lecture review titled "Unlocking the Mystery of Your Genes: The Role of Genomics and Epigenetics in Endometriosis" introduced unique insights in the role of functional genetic expression testing for patients and clinicians alike. As a licensed physician and former OBGYN, Dr. Kline spoke resoundingly to the sufferer in a quest for answers with undeniable compassion backed by sensible science that appeals to a wide array of audiences. Dr. Kline received a well-received response from her direct audience and those online and beyond. She also received special recognition from patient care community where the vast majority expressed admiration for her holistic and complementary approach to this debilitating health disorder. Dr. Kline credits her engaging design for women's health to her extended training in functional medicine.
UNLOCKING THE MYSTERY OF YOUR GENES
In order to address endometriosis more effectively, we first need to understand what causes it. And it turns out it's not so simple. Endometriosis is a very complex disease, which means that there is no single cause and no single answer. That has led to significant challenges in how we diagnose and treat it.
What's exciting is that genetic expression research is providing lots of different clues as to what's really causing endometriosis. This opens up new opportunities for better diagnostics, earlier detection, and more effective treatments because they're personalized and hopefully address the disease earlier in the process. Perhaps in the future, we can be talking about prevention of endometriosis altogether.
Enough reports identify that endometriosis runs in families, and there is clearly an inherited genetic component. Indeed, research has shown that genetics can account for up to half of a woman’s risk. But what is equally important is that environmental influences make up the other half. This gives us a lot of opportunity to intervene and potentially change the course of the disease.
BENEFITS OF GENE EXPRESSION
DNA contains the genetic code and it is the blueprint for everything that runs in our biology. Our DNA is stored in a compact form called chromosomes, and specific sections of that DNA called genes provide the code for proteins. These proteins do everything to run our biology, making them the real workhorses. And our biology doesn't run well if they're not working right.
Gene expression is the process of translating genes into proteins. Sometimes, errors occur in the DNA code that can change the instructions for making the protein. This can alter how that gene gets expressed and how the protein gets produced. Generally, this happens through genetic mutations (which are typically rare but can have serious consequences). This is what causes diseases like sickle cell anemia or even Down syndrome. Much more commonly, we can also have errors in our DNA that are called polymorphisms. Now, these are also called SNPs for short. These are very tiny errors that don't have the big impact that the mutations have, but they can still potentially alter biochemistry and lead to disease over time. M-T-H-F-R is one gene that you may have heard of that has a common SNP that many of us carry.
In addition to the DNA code itself, there's one more layer of consideration- epigenetics. Epigenetics literally means above the genome, and it turns genes on and off by adding and removing little chemical tags. It does not affect the DNA sequence itself. It is not like the mutations or the polymorphisms that alter the genes that produce proteins. It just is turning those genes on and off.
Epigenetics is actually a crucial mechanism for guiding embryological development, and it's really a complex dance, if you will, to get the timing sequences right. But epigenetics also works throughout our lifetime to help us adapt to our environment and experiences.
All of these processes regulate gene expression, and they do this synergistically. They're all working together - multiple layers that end up with a certain outcome of gene expression. All of these can be inherited, so you can inherit not only mutations but SNPs and epigenetic changes. This can be especially important when we're talking about inheriting trauma. All of these will influence health or disease, including endometriosis. But where it gets really exciting is when we start talking about the interaction with the environment.
As you can see in this diagram, there are many things that influence how gene expression eventually gets translated through the epigenome and the genome. This gives us the potential to modify genetic expression and potentially change the outcome.
In broader terms, out of all the things that you cannot control in your experience with endometriosis, (including your genes themselves), genetic expression can be influenced. This mode of intervention is a powerful way to regain some control over a disease that so much of the time feels like it's controlling you. By this, gene expression research has shown that multiple pathways are involved in causing endometriosis. That can initially seem overwhelming, but conversely, this gene expression gives us multiple pathways to healing the disease.
ENDO-ANALYSIS & TARGETING SYMPTOMS
A variety of biological pathways have been implicated in endometriosis, including hormone metabolism (particularly estrogen and progesterone), inflammation and oxidative stress, detoxification of chemicals and toxins, vascular growth factors and angiogenesis, as well as processes regulating DNA repair, tumor suppression, cell growth and death, and cell signaling.
Studies identify estrogen and progesterone metabolism to be the most well-known, but this condensed review shall focus on inflammation. Oxidative stress is included in this report because inflammation and oxidative stress are found to commonly go hand in hand (recognized as the yin and yang)- whereby, referring to one tends to also identify the other.
One thing to remember is that as we go through some different strategies, each strategy itself can influence gene expression and, therefore, potentially, the disease. But they are synergistic. The more of them that you do and do consistently, the better they work; they actually amplify each other. So together, they're much more powerful than using just one.
EAT ‘GENE-FRIENDLY’ FOODS
Specific to this disorder, it is recommended to eat foods that specifically “talk” to our genes and provides critical support for our biochemistry in a positive way. This includes supporting healthy immune and antioxidant systems.
The Mediterranean diet has been shown to be overall the healthiest way to feed our genes and support our epigenetics. This includes key vitamins and minerals, also phytonutrients, such as resveratrol, quercetin, green tea or curcumin - you may have heard of some of these. There's also fiber for the microbiome, which is just as important in talking with our genes and our gene expression.
There are healthy fats and proteins, and of course, minimally processed foods and few refined sugars. These alone can make a big difference in terms of your genetic expression, guiding it towards a healthier way.
MOVE YOUR BODY
Most of us think of exercise as something to stay fit or to lose weight, but movement is actually part of a body-wide communication similar to our hormones. When you exercise, that sets into motion communication that goes throughout your body and affects all sorts of different systems.
The key is to pick something that you enjoy that you can do every day. Whether you walk or hike, work out at a gym, do some more conventional types of exercises, or maybe you like to dance or garden, or even do things when you go out and play, these are all different ways to move your body. And if you can move it every day, that sends signals to your genes to express in a way that supports your health rather than disease.
Getting a good night's sleep is crucial for so many reasons. Sleep is an active state. This is when you repair your DNA, process experiences, and regenerate your cellular biology including your immune system. Our circadian rhythm is also directly linked to gene expression, so both the amount and the timing are important.
Aim for about six to eight hours of sleep, and the timing is critical. Sleeping before midnight and getting most of your sleep between 9 or 10 pm and 6 or 7:00 AM are ways to better support your body's restoration. Avoiding night shifts and frequent travel across multiple time zones can also be helpful. And of course, if you have issues that are interrupting your ability to get good night's sleep, please get them addressed.
MANAGE STRESS
Stress is one of the biggest contributors to dysfunction in our biology, and it directly influences gene expression throughout our whole body, including our gut. Stress is a biological response. It's not just in your head. It’s a response to both internal events, such as our thoughts and beliefs, as well as external events such as trauma, relationships, or deadlines at work.
Many ways have been shown to reduce stress or help people create resilience during stressful times. Importantly, it's about choosing something that works for you. What I generally suggest is to try a few things that seem to work for you so you have multiple tools in your toolbox because you probably will need different ones at different times.
Here's a list of many things that have been shown to reduce stress. These include meditation, massage, energy work, creative outlets, being in nature or with pets, connection with others – and even hugs. One that many people don't think about is joy.
When we are in a state of joy, we cannot physiologically also be in a state of stress. So remembering to put joy into your life on a regular basis is actually a great way to manage stress.
Toxins directly and indirectly damage DNA and alter our biological processes. So, minimizing the toxins in your daily life is going to be important. Obviously, you cannot control the air, water, and soil around you, but there are things you can do to minimize your exposure.
One of the greatest points of exposure is through personal care products, so make sure you read your labels. Know what you're putting on your body, because what you put on your body also goes in your body.
Once you've done all that, the next question is, “how do I know if it is working?” You can go by symptoms, and that is certainly one barometer that you can use to gauge how effective your strategies are, but you can go even deeper. Testing allows you to be more precise and eliminate a lot of the guessing. And there are two ways to do this. You can test your genetic expression and the things that underlie that in terms of genetic testing, genomic testing and epigenetic testing to personalize nutrition, lifestyle, even medication choices.
The other place to get tested is in your regular lab tests. These include conventional and functional labs. It also includes your microbiome. Your gut is a very important part of both your immune system as well as your overall health. So doing all of these strategies or picking and choosing which ones work for you is a great place to start. And for many that may be all you need.
But if you want to dive deeper, either because you want to be more precise or because what you're doing is not quite getting you the results you want in terms of your symptoms, then go deeper. Test what's going on in your biology, in your biochemistry, so then you can know what's working, what's not, and where you need to adjust.
Hopefully, this review provides a hopeful glimpse into the future, in addition to the existing ray of hope in today’s science. There is much that can be done that can make a difference in your life and in your current state of health.