What Role Does Functional Genetics Play in Fertility? What Can You Do About It?

Genetics & Fertility: What Role Does Genetics Play?

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?

You inherit two copies of each of your genes, one from each parent. This makes up your basic genetic information. Your individual collection of genes makes up your genotype. 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. Knowing your genotype for a particular variation will allow you to understand how the gene may express for you and will allow you to personalize your treatments and recommendations based on your individual genetic legacy. These SNPs can play a role in how your body processes hormones and toxins others will speak to what the ideal or optimal diet and exercise regime is for you. There are also SNPs that speak to your body’s ability to handle free radicals to prevent them from damaging your eggs or sperm.

The great thing about the SNP’s that I am writing about is that they have the ability to essentially be turned on, off or dimmed 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 PCOS or endometriosis can see considerable improvements after learning about their SNPs.

So, lets talk about the SNP’s that play the biggest role in fertility.

  1. MTHFR (Methylenetetrahydrofolate reductase)

MTHFR is a gene involved in an important detoxification pathway called methylation. The MTHFR SNP codes for your body’s ability to make an enzyme that converts folate into its active from 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 we can see this contribute to mood concerns, hormonal balance and poor development of both egg and sperm. Folate is also essential at helping maintain good homocysteine levels. High homocysteine levels can contribute 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. If you have an unfavourable SNP for MTHFR if you are taking the synthetic version of folate called folic acid it won’t be converted properly and will leave you folate deficient which could contribute to early pregnancy loss or birth defects.

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 don’t know your genetic status or you carry an unfavourable SNP it is important to ensure that your prenatal vitamin contains at minimum natural folate or ideally the active form of folate L-5-MTHFR.

  1. CYP 1A2 (Cytochrome P450 1A2)

Our detoxification pathway through the liver is separated into 2 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 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 one. For this gene you can either be coded as a fast or slow metabolizer.  Usually we would think that this is a good thing to be fast and to get rid of toxins quickly. This is however not ideal because if Phase 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 the are eliminated from the body. If you are classed as a slow metabolizer this is ideal for phase one. If you are a fast metaboliser there are herbs such as curcumin that will help slow down phase one and counteract the negative impact the fast metabolism can have on both inflammatory processes and cancer-causing effects.

  1. SOD2 (Superoxide Dismutase 2)

SOD2 is a gene that codes for oxidative phosphorylation inside your mitochondria. So essentially it is what 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.

The unfavorable genotype is associated with a ten-fold higher risk of heart disease as well as being associated with other inflammatory processes. If you have an unfavourable SNP for SOD2 and are struggling with fertility it is imperative that you minimize your exposures 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 the area of 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 conjunction with one another so they can not be interpreted on their own but 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.

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