Science no longer sees genetics a blueprint that is set in stone. In the last two decades we’ve learned that biological inheritance is much more complex and strongly influenced by environmental factors. How we live can actually create molecular changes that aren’t encoded in the DNA but do get passed down to our children and grandchildren.

New understanding means new language

The sum total of all the environmental factors in our lives is called the exposome.   Included in this is any exposure to toxins and stress.  Diet, activity level, social contact and sleep also play in. There’s a complex interaction between our exposome and our genes. The exposome regulates the activation, suppression and expression of genes.  Its influence by what happend during our parent’s and even our grandparent’s lives.  This is epigenetics.

Epigenetics and Methylation

What makes epigenetics so awesome?  Factors we thought were set in stone aren’t.  We have more power than we previously thought.  I’ll explain how this happens on a cellular level.

In terms of methylation, a gene mutation like MTHFR predisposes a person to certain deficiencies.   The activity of specific enzymes is affected which lowers energy production overall.  However many people who have this defect will not express these deficiencies. Knowing the mutation is there is not a diagnosis.  Its a clue.  If symptoms arise then this can be a starting place.  To avoid issues certain diet, supplement and lifestyle modifications can be made.

MTHFR is the most talked about mutation. It stands for methylenetetrahydrofolate reductase. Other important ones are: CBS, COMT, VDR, MTR, and MTRR. A genetic test like 23andme will show you if you have a mutation.  Unless you’ve checked out how you are methylating this information is limited.

Gene Expression

If you receive the same mutation from both parents you’ll be considered homozygous. If you’re heterozygous for a mutation it means you have a single normal, non-mutated copy of the gene and another copy that’s mutated. Homozygous mutations are often more serious because whatever enzymes this particular gene codes, are not going to be produced at all.

Another wild part of all this is symptoms don’t always show up even when enzyme activity is reduced significantly.  So it really is individual.  I’m treating an athlete right now with poor methylation. It’s unlikely that we’ll do genetic testing however we will look into the exposome because this accounts of 90% of what’s being expressed.  A gut infection, chronic stress from undereating or overtraining, a cortisol or thyroid imbalance are all triggers.  

Often people will have low levels of folate, B12 and glutathione. Checking these along with inflammatory markers and specific metabolites from the methylation cycle informs treatment. 

Poor methylation increases susceptibility to toxins and infections. Impaired detox capacity and immune dysregulation can lead to infertility, mast cell activation syndrome, depression, anxiety, chronic fatigue and miscarriage. 

An Important Difference

Genetic mutations like these are different than the mutations that are associated with specific diseases like cystic fibrosis and sickle-cell anemia.  These gene mutations guarantee a person will develop the disease. With methylation there’s a lot more variation. It’s a predisposing factor meaning that it could lead to an issue or be a factor in health. This is really dependent on all the individual’s exposome as well as other factors that we don’t even fully understand yet.  

Lab Testing

There are two tests I commonly use that have methylation markers. One primarily looks at cortisol along with a number of other hormones and their metabolites. The other is a test that’s indicated when there are cognitive issues or at the beginning of treatment for a general health overview.  All the functional labs are listed on my website under ‘Work With Me’.