How do your genes impact your fertility and what can you do about it?
Do you know how your genes impact your fertility? What does genomics have to do with your ability to get pregnant or stay pregnant? How does it effect the health of your future family?
Our body is designed by a set of genetic instructions, which is known as your genome. We know we share traits with our parents and other family members. How do we actually receive this information?
To make up your basic genetic information, you inherit two copies of each of your genes, one from each parent. Your individual collection of genes makes up your genotype. Genes are made up of a unique sequence of four different building blocks T, C, A and G. The building blocks form bases which pair with one another and form your DNA strands. Genes will range anywhere from 500 base building blocks up to 2.5 million letter combinations.
Genes are then further arranged into 23 pairs of chromosomes. Even though each gene is inherited from our parents and this letter sequence is almost identical, there can be variations between the two copies at certain points in the sequence. When there is a single letter that varies this is known as a single nucleotide polymorphism or SNP. Different SNPs will have an impact on the way the gene behaves. There are some SNPs that speak to your body’s ability to handle free radicals to prevent them from damaging your eggs or sperm.
Others dictate how your body processes hormones and toxins. This can help you decide if you will be a good responder to medications or why you respond differently then others to certain substances like alcohol or caffeine. Knowing your genotype for a particular SNP will help you understand how the gene may work for you, which will allow you to personalize your treatments and recommendations based on your individual genetic legacy.
The remarkable thing about the SNPs that I am writing about, is that they have the ability to essentially be turned on, off or dimmed. Expression of the SNP will change based on diet and lifestyle changes or can be managed by supplementing different nutrients. Often once you have been able to optimize your choices based on your own genetic individuality, health concerns you are experiencing will start to improve or even disappear. In practice, I often find patients who have been diagnosed with unexplained infertility or who are presenting with conditions such as polycystic ovarian syndrome (PCOS) or endometriosis can see considerable improvements after learning about their SNPs.
So, lets talk about the SNPs that play the biggest role in fertility.
MTHFR (Methylenetetrahydrofolate reductase)
MTHFR is a gene involved in an important detoxification pathway called methylation. This gene codes for your body to make an enzyme that converts folate into its active form 5-MTHFR which is used in multiple different pathways. If you don’t have a favorable SNP for this gene, then your body has a reduced ability to convert folate and to detoxify. Methyl donors created through this pathway are critical for several processes in the body including detoxification, DNA repair and syntheses, hormone and neurotransmitter metabolism. So, if this pathway isn’t working well it can contribute to mood concerns, hormonal imbalance and poor development of both egg and sperm. Folate is also essential at helping maintain good homocysteine levels. High homocysteine levels can contribute to cardiovascular disease including high blood pressure and stoke. We also know folate is essential for the early-stages of fetal growth and development and in the prevention of birth defects.
At the MTHFR gene you can have either 2 T’s, 2 C’s or one of each. If you have 2 C’s this means that theis gene is working with optimal function so,. I if the patient is eating a healthy diet, we would expect the person to have normal function of this enzyme. If you carry one of each the C and T, your enzyme will work at about 65% the rate of someone with 2 C’s. This means that you with good lifestyle habits you would likely not notice the diminished capacity. However, i but, if you are experiencing symptoms associated with mood, hormonal balance or cardiovascular symptoms, you may need more active folate.
During preconception and in early pregnancy, supplementing with some active folate labeled as L-5-MTHFR would help take the pressure off this enzyme and ensure your body is getting enough active folate.
If you are someone with 2 T’s at the MTHFRis spot gene, your enzyme will work at about 30% the rate of someone with 2 C’s. I will often find that patients with depression, anxiety, ADHD or a history of recurrent miscarriage have 2 T’s. For patients who have 2 Ts this, I will generally recommend for at least 3 months that they avoid fortified grains for at least 3 months and supplement only with active L-5-MTHFR folate before trying to conceive. If these patients consume or supplement with synthetic folic acid, it can impair this enzyme even further and could potentially lead to early miscarriage or birth defects. If you do carry a T it is important to ensure that your prenatal vitamin contains, at minimum, natural folate or ideally the active form of folate L-5-MTHFR.
CYP 1A2 (Cytochrome P450 1A2)
Our detoxification pathway through the liver is separated into two2 phases. The first phase is a process where the body takes substances such as estrogens, some medications, alcohol or other toxins and changes its shape to notify or ‘flag’ the phase-2. Phase-2 detoxification works at the same time and identifies the toxin created through phase 1 and works to clear it from the body. The substances that are created by phase- 1 are generally more toxic for the body then the original substance and can either be carcinogenic or pro-inflammatory. If both phases of this process are working well you are likely eliminating toxins effectively. If not, then over time we can begin to see symptoms associated with poor detoxification and elimination. When it comes to hormones this can include things such as flare ups of endometriosis, acne or skin changes, fatigue and mental fog.
The CYP 1A2 gene, codes for your phase-1. At this spot you can carry either 2 A’s, 2 G’s or one of each. If you are someone who carries 2 A’s you are known as a fast metabolizer.
Usually we would think that this is a good thing to get rid of toxins quickly. This is, however, not ideal because if Pphase- 2 isn’t able to keep up with this fast metabolism, you can end up with a buildup of flagged toxins that can create inflammation or DNA damage before they are eliminated from the body. If you carry 1 or 2 G’s then you are classed as a slow metabolizer which is ideal for phase-1. If you are a fast metabolizer there are herbs such as curcumin that will help slow down phase-1 and counteract the negative impact the fast metabolism can have on both inflammatory processes and cancer-causing effects.
SOD2 (Superoxide Dismutase 2)
SOD2 is a gene that codes for oxidative phosphorylation inside your mitochondria. Essentially it stops free radicals from damaging mitochondria which are responsible for making energy in all the cells in your body. This is particularly relevant to fertility as mitochondria play a critical role in the healthy development of your egg and sperm as well as the developing blastocyst once conception has taken place. Mitochondria provide the energy necessary for the sperm to be able to swim to meet the egg. They also provide all the energy for the egg to develop and mature. If mitochondria aren’t able to produce adequate amounts of energy, then it is unlikely for conception to occur.
With this gene you can have either 2 T’s, 2 Cs or one of each. The 2C genotype is associated with optimal function of this enzyme. The 2T genotype is associated with a ten-fold higher risk of heart disease as well as being associated with other inflammatory processes. If you are a 2T and struggling with fertility it is imperative that you minimize your exposure to free radicals and significantly increase your consumption of antioxidants, either through foods or supplements or both. This genotype can be a big contributor to poor egg and sperm quality particularly in sperm DNA fragmentation or overall poor egg quality.
There are several companies that have genome testing available, but it is critical to have your report interpreted by a trained health care professional who understands the implication of genes in fertility. Many of the genes work in junction with one another so they can not be interpreted on their own but rather in groupings. Understanding your genetic legacy will go a long way to helping you decide what the most effective dietary, lifestyle and supplement or medication changes will be for you. Your genes hold the key to your future, for both disease prevention and individualized medicine to optimize your health.
Dr. Jodie Peacock is a Naturopathic doctor in Canada who runs the program, Enhance Fertility Bootcamp.
For more information about optimizing your health or understanding your genetic legacy you can contact firstname.lastname@example.org