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Scientists Discover a Sperm Biomarker Linked to Fertility

Scientists discover a key correlation between mitochondrial DNA and sperm quality.

October 30, 2020
Katie Sabel

How much do you know about male fertility? What about fertility treatment methods? Maybe you’ve heard of the vasectomy, but what about the science behind sperm and sperm quality?

Well, that lack of information is due to a lack of information available overall. Studies are currently ongoing about sperm science, and exactly what causes sperm to be higher or lower quality. 

Most recently, a study involving the NELL2 gene revealed the importance of the luminal pathway. Plus, that study is especially promising to the development of infertility treatments and even male contraceptives.

However, when it comes to male fertility in our day-to-day lives, the diagnoses that we have are currently far behind the scientific advancements in understanding sperm. According to UMass Amherst environmental epigeneticist Richard Pilsner, “Clinically, the diagnosis of male infertility really hasn’t changed in decades.” 

So, while there have been key breakthroughs in research on the molecular and cellular functions of sperm, you wouldn’t hear about them in a doctors office, and it likely wouldn’t come up in a conversation about potential treatments.

The latest in the line of molecular and cellular research on sperm comes to us from UMass Amherst. In early October of 2020, researches found a key sperm biomarker in the fertility process.

Mitochondrial DNA in the Fertility Process

Close-up depiction of DNA structures
In a previous study, scientists at UMass Amherst found a key correlation between mitochondrial DNA copy and deletion levels and the sperm’s rate of fertilization.

To understand this discovery, it is first important to understand the role of mitochondrial DNA in fertility. Mitochondrial DNA is maternally inherited, and sperm mitochondrial DNA copy number (also known as mtDNAcn) is known to decrease before fertilization. In fact, in order to ensure successful fertilization, mtDNAcn naturally decreases in the body almost ten-fold during spermatogenesis.

If you’re not familiar with spermatogenesis, it is the process by which sperm develop from germ cells in the seminiferous tubules of the testes. It takes place in three main stages: the proliferation phase, the meiotic phase, and the differentiation phase. 

mtDNAcn’s Implications for Fertilization

A scientist uses a micropipette to transfer samples in a lab
To better understand mtDNAcn’s effect on fertilization, scientists researched the correlation between the mitochondrial DNA and men’s overall rate of fertility. 

Prior to this study, research by scientists at UMass Amherst had discovered a key feature of mtDNAcn in fertility. As it happens, increased mtDNAcn and mitochondrial deletions (also known as mtDNAdel) were found to be linked to decreased sperm quality and a lower rate of fertilization in men seeking treatment.

However, the population studied needed to be expanded. After all, men seeking treatment might not be indicative of the general male population. So, what about the general public?

In order to answer this question, the researchers accessed sperm samples from another study conducted from 2005-2009: the LIFE study. In that previous study, scientists examined the relationship between lifestyle and fertility. To conduct this new research, the scientists at UMass Amherst used sperm samples and data on the probability of pregnancy to determine whether there was a correlation between mtDNAcn and mtDNAdel and infertility.

What the Study Found


Charts and graphs are sprawled out across several sheets of paper
Brian Whitcomb, one of the scientists behind this discovery, cited interdisciplinary work in science and statistics as a key reason for success in this project. By using data analysis, Scientists at UMass Amherst recently discovered an important inverse correlation between sperm mitochondrial biomarkers and a couples’ time-to-pregnancy. Courtesy of stats.gov.sa

Using the data from the LIFE study, researchers found that there is a strong inverse relationship between these sperm mitochondrial biomarkers and a couples’ time-to-pregnancy. In fact, men with higher sperm mtDNAcn had as much as 50% lower odds of cycle-specific pregnancy.

Implications for Infertility Treatment 

Close-up on a doctor's stethoscope and record sheet
According to Pilsner, while there have been many advancements in understanding the molecular science behind sperm fertility, we are yet to see those same advancements taking shape in treatments and diagnosis. So, it may be some time before we reap the benefits of UMass Amherst’s breakthrough.

Unfortunately, when it comes to the implications of this study, we’re not yet sure how it’ll affect diagnosis and treatment. While we know there is a correlation between high levels of mtDNAcn and lower pregnancy rates, we don’t yet know what causes this high amount of mtDNAcn. 

According to the scientists behind this study, their next steps will involve trying to gain a better understanding of what causes that retention of mtDNAcn during spermatogenesis. 

However, scientists are still hopeful for the future. According to Pilsner, “Understanding what is causing the retention of mitochondrial copy number during spermatogenesis will help us come up with better platforms to intervene and to promote better reproductive success.”

So, we may have much to look forward to when it comes to male infertility treatments as these types of studies continue.

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