Biology of Reproduction: The Epigenetics of Sperm

Every cell in your body contains DNA. Like fingerprints, DNA is unique for each person. DNA is made up of 23 chromosomes which hold all the information about what makes you, you. It defines your eye color, your hair color, if you have freckles or dimples, if you can roll your tongue or if you are likely to go bald when you get older. You can think of it as a cookbook that the cells what they can use as they “build” your body.

What is epigenetics?

Epigenetics is the study of how external and environmental factors can impact our DNA’s gene expression without changing the DNA itself. If DNA is the cookbook, then epigenetics is the cook that helps the body read and mix together our genetic recipe.

There are multiple processes that regulate which genes are expressed by a given cell. Both your skin cells and your blood cells come from the same DNA, but genes are expressed differently to help us sustain a normally functioning human body. Some of the most common processes that epigenetic researchers study include DNA methylation and histone modification. These are chemical processes that enable the cell to access and use genetic information in your DNA.

Think about DNA as data storage. There is a lot of information in there, but on its own it isn’t really doing anything. The activity is coming from the genes that are in our DNA. Different genes can be turned “on” or “off” changing how your DNA functions even though all the same information is still there in your DNA.

“Several external factors can impact your epigenome, including aging, environmental exposure, diseases like cancer, diet, and even exercise.”

Epigenetics also looks at factors that can change your gene expression. Several external factors can impact your epigenome, including aging, environmental exposure, diseases like cancer, diet, and even exercise. These changes could be positive or negative and they can change in both directions. That is, if you experienced negative changes to your epigenome from smoking, quitting could allow it to bounce back.

Epigenetics and Male Fertility

What does all this mean for male fertility? Well, we know that genes can be turned “on” or “off” and we know that certain genes play a role in our fertility. Different genes are believed to be associated with different parts of fertility.

TAS2R60 for example is a gene that is thought to have an important role in helping sperm “find” the egg and the gene CATSPERhas a well-documented role in helping sperm penetrate the egg, while ID3 is important for embryo development. These are just three out of many genes believed to be related to fertility. Abnormal methylation caused by environmental factors in any of these genes could contribute to infertility.

By examining sperm DNA for abnormal methylation at different gene sites important to fertility, a risk for male factor infertility and a risk for poor embryo development can be determined.

Using epigenetics to improve fertility outcomes

We now have tools to analyze the epigenome of sperm on a routine basis. Research shows that abnormal DNA methylation in sperm has been associated with poor IVF outcome, suggesting that sperm methylation marks affect early embryogenesis.

We know that there are multiple factors that influence methylation and that some of these are in your control. If you get tested and find abnormalities, there may be steps that you can take with your doctor to improve your health and improve your chances of conception either naturally or using assisted reproduction techniques such as IVF.

Learn more: Episona has developed an epigenetic male fertility test called Seed, that looks at abnormalities with individual genes in your DNA and gives you more specific information about what is happening with your case.

Philip Uren

Philip Uren

Director of Data Science at Episona
Philip Uren is the Director of Data Science at Episona, where he oversees data analysis and the development of computational models and algorithms. He received his Ph.D. in computer science from the University of Tasmania, where his dissertation focused on the development and application of machine learning techniques to gene-finding and characterization.
Philip Uren

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2017-02-23T18:03:51+00:00 Featured, Male Reproduction|0 Comments

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