Checking under the hood – looking for root causes to health issues through gene testing
By Beth O’Hara
– Do you struggle with chronic fatigue – or maybe with sleep issues? Or do you experience symptoms of food intolerances and inflammation? And are you trying to find suitable treatments for your problems? Then, like me, you might have consulted more than a dozen health care practitioners, tried multiple diets and even more supplements! Maybe now is the time for a gene check?
One supplement for heavy metal detox made me itch like crazy. L-Glutamine, the gold standard supplement for leaky gut caused insomnia – and still didn’t fix my gut. Numerous diets never really cleared up my digestion. I have tried allopathic medications, acupuncture, supplements, exercise, biofeedback, and the list goes on…
So when my Functional Medicine doctor told me that he just didn’t know what was wrong with me, I knew it was time to dig deeper and look for the root causes to my health issues. This led me to the world of genetics – and particularly to nutrigenomics (what gene therapy is formally called). The following is a short version of my experiences with genetic testing and an introduction into the landscapes of genetics.
Genes 101 – How they work
Genes hold the coding for how to create and maintain our cells. Their DNA consists of 4 bases – Adenine, Thymine, Guanine and Cytosine – that are abbreviated A, T, G, and C. The A and T bases pair together, and G and C bases pair together. These bases are linked into long strands called chromosomes. Humans have billions of genes, and we all have some variations in our gene code that make us unique. These variations are called SNPs (single nucleotide polymorphisms). Some of these variations are functional like for eye color, some have little or no impact and others can cause devastating health issues.
Genes are passed on from parents to children. Children most often receive one instance of a gene pair from each parent. So if I received a C base from my mother and a C base from my father, this gene would be coded CC. If we look at the HLA-DQA1 gene, one of several genes responsible for gluten tolerance, we find CC is considered “normal” coding. But as I received a C base from my mother and a T base from my father then the gene is coded CT, which is considered a heterozygous mutation. This coding could very well explain why I have gluten intolerance. It is also possible to receive a T base from both mother and father. This would be considered a stronger – homozygous – mutation and is even more likely to cause gluten intolerance.
So what is epigenetics and nutrigenomics?
Epigenetics looks at gene function and expression in order to locate our potential weak links. However gene mutations don’t necessarily cause problems. How and even whether a particular gene is expressed depends on a myriad of external factors such as diet, stress levels, infections, toxin load and chemical exposure. Likewise meditation seems to have a positive effect on gene expression!
Nutrigenomics is an emerging field that focuses on the effect of nutrients on gene expression. It provides protocols for targeted and customized diet, supplements, and treatment, based on both an individual’s genes as well as additional biochemistry markers. As epigenetics shows us, we are all different and a one-size-fits-all approach simply doesn’t work for everyone, nutrigenomics tells us which types of treatments are more likely to work for each individual.
One example of this is the generally recommended daily allowance for B-12. Some people can absorb all they need from a balanced diet, but others will need much more B-12 depending on their MTR and MTRR genes. Higher quality supplements offer methylcobalamin – a readily usable form of B-12. But unfortunately, if you have mutations on the COMT genes, this form of B-12 decreases your ability to break down methyl groups. As a result, for some people methylcobalamin can cause a variety of symptoms including overstimulation, anxiety and insomnia. In this case hydroxycobalamin would be a better choice.
Another example is folate recommendations for pregnant women to prevent birth defects. The most common supplement is folic acid. However, about 40% of people have some MTHFR mutations, and their system may not be able to make use of the folic acid. Supplementing with folic acid can in fact cause dangerously high unmetabolized folic acid levels for those people, and still won’t prevent birth defects. Instead, they will have to supplement with 5 methylfolate. In this instance, genetic testing can be vital for a healthy pregnancy.
These are just two examples of the thousands of areas that Epigenetics impacts. Our genes affect food sensitivities and nutrient requirements, play a role in drug, chemical and toxin tolerance, and also determine detoxification and methylation capabilities. Nutrigenomics can help circumvent genetic issues, providing treatment and prevention for many chronic illnesses related to epigenetics.
How to get started?
Out of the over three billion human genes, how can we know which ones to focus on? Dr. Amy Yasko is a biochemist, naturopath and a pioneer in the field of Nutrigenomics. Her protocol for inflammatory disorders, chronic fatigue and autism looks at the relationship of about 30 genes she believes influence chronic health issues and can be addressed accordingly. These genes are mostly related to methylation which is a fundamental pathway in the body involved in gene expression, metal detoxification, RNA regulation, protein function and many other biochemical processes. In this way methylation underlies aging, digestion, inflammation, energy production, immunity and more. Also of importance are additional genes responsible for detoxification, gluten and lactose tolerance, histamine tolerance, mitochondrial function, clotting and immunity.
The most common gene tests use either blood or saliva. Blood testing tends to be more reliable – and is also more expensive. Physicians can order genetic testing for patients and some labs may be covered under insurance. Quest Diagnostics, Genova Diagnostics and Counsyl all offer blood gene testing that must be ordered through a health care practitioner.
Through her website Dr. Amy Yasko offers a highly reliable blood test for methylation genes along with her recommendations. This test is available for anyone to order.
The least expensive, most thorough and most accessible option is offered by 23andMe
As of the writing of this article, the test is $99US. This company offers saliva testing analyzing 1,000,000 SNPs. 23andme will provide you with a health report about certain conditions and traits as well as an ancestry report. While somewhat helpful, 23andme doesn’t show you specific SNPs.
How to make further use of 23andMe testing
After receiving your test results, there are a few independent applications that can run your raw data from 23andMe, giving you specific information about a number of important SNPs.
The free one is Genetic Genie, giving you specific methylation and detoxification SNPs. The methylation report correlates closely with many of the SNPs that Dr. Amy Yasko considers crucial.
LiveWello is another website with a 23andMe application, costing $19.95US. This application reports several SNPs related to the transulfuration pathway, methylation pathway, liver detox pathways, mitochondrial function, thyroid disease, Alzheimer’s risk, cell membrane integrity, IgG, IgA, and IgE immunity, clotting factors, and susceptibility to gut issues.
MTHFRSupport.com also offers an application processing 23andMe raw data for similar SNPs to LiveWello. Their report costs $20US.
What if we want to look up a SNP that isn’t included in one of the above reports? We can use the Sandbox feature in LiveWello to look for specific additional genes pairs, as well as search the raw data in 23andMe.
I dug into my SNPs – now what?
While I haven’t got all of my health issues worked out yet, I now have a lot of clues as to root causes for my symptoms and a number of possibilities to explore after looking into my genes and corresponding Nutrigenomic applications for my symptoms. I understand why methyl-B12 didn’t work for me, why Prednisone made me feel crazy, and why l-Glutamate didn’t heal my gut. I know what caused my itching in the metal clearing supplement, why eggs sometimes make me nauseous and why I can’t use Epsom Salts. Looking at the genes related to my sensitivities has helped me sort out which foods I need to avoid or moderate and to find customized supplements to bypass areas that aren’t working well. I now believe the road has opened up and my health is slowly improving.
Genomics and Nutrigenomics are still fields in the making, but they seem to offer promising treatments for a variety of issues and conditions as well as optimistic encouragement for those who have exhausted other methods for healing.
Beth O’Hara is a Wellness Life Coach and Iyengar Yoga Teacher residing in Cincinnati, OH. Living with chronic fatigue and inflammation has taken her on a journey from junk food queen and stress magnet to a love of treating her body with gentleness and respect through nutrition, yoga and laughter. Visit Beth’s webpage
http://en.wikipedia.org/wiki/Epigenetics, accessed November 16, 2013
http://en.wikipedia.org/wiki/Human_genome, accessed November 16, 2013
Yasko, Dr. Amy. Autism: Pathways to Recovery, 2009. (Available in electronic format through Scribd)
Yasko, Dr. Amy. Genetic Bypass, 2005. (Available in electronic format through Scribd)