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MTHFR Gene Mutation Testing and Male Fertility

By November 2, 2023No Comments

Navigating underlying genetic factors is beneficial for all men in the process of understanding their fertility. One genetic factor that should be on every man’s radar is the MTHFR gene. 

Mutations in the MTHFR gene can significantly impact a man’s reproductive health, hindering sperm quality and overall fertility. Here, you will learn why MTHFR gene mutation testing matters, how MTHFR can affect fertility, how to test for MTHFR mutations at home, and more.

What is MTHFR?

MTHFR (methylenetetrahydrofolate reductase) represents both a gene and its corresponding enzyme. The instructions for producing the MTHFR enzyme come from the MTHFR gene. The MTHFR enzyme helps your body process folate – a B vitamin that is essential for many bodily functions. These bodily functions include:

  • Producing DNA
  • Making red blood cells
  • Preventing neural tube defects in developing babies

Why MTHFR Gene Mutation Testing Matters

MTHFR gene mutations are common and can affect how well your body processes folate, though not all mutations are equal in terms of how they affect one’s health. Some MTHFR gene mutations have been linked to a number of health conditions, including:

  • Blood clots
  • Male infertility 
  • Female infertility 
  • Migraines
  • Depression
  • Anxiety
  • And more

How Male Fertility and MTHFR Gene Mutation Testing are Connected

Male fertility and MTHFR are interconnected in a variety of ways. For example, folate is processed by the MTHFR enzyme, and is also very beneficial for sperm functions like sperm production and DNA methylation

Men with certain MTHFR gene variants (or mutations) may have lower levels of folate and higher levels of homocysteine, which can both hinder sperm parameters. 

One mutation in the MTHFR gene that has been linked to male infertility is the MTHFR 677 C>T variant. This 667 variant is the most common MTHFR gene mutation, and it can reduce the activity of the MTHFR enzyme by up to 50%.

One 2015 study notes that men with the MTHFR 677 C>T mutation are more likely to have suboptimal sperm parameters, for example:

Not all men with this MTHFR gene mutation will experience suboptimal semen parameters and/or infertility, but they are more likely to when compared to men without the 667 mutation.

Contrarily, many men with infertility issues do not have any MTHFR gene mutations. There are many other factors that can contribute to male infertility, such as environmental hazards, diet and exercise, and mental health considerations.

MTHFR Gene Mutation Testing At Home with EmpowerDX

The EmpowerDX At-Home MTHFR Gene Test determines if you have a 677 variant and a 1298 variant of the MTHFR gene. EmpowerDX’s 3 step process allows for affordable, convenient, and accurate testing in the comfort of your own home.

1. Order online

Get the test delivered to your doorstep with just a few clicks.

2. Collect at home

Complete your EmpowerDX MTHFR test at home, and mail it to our lab with a prepaid shipping label (Monday-Friday).

3. Get secure results

Receive your test results in 5-6 business days & get the clarity you deserve – confidentially.

Struggling with infertility and need answers?

An at-home sperm test from SpermCheck can help you know your sperm levels and discover the best next step in your fertility journey. Order your SpermCheck Fertility test today.

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