New genetic map of male infertility.

New genetic map of male infertility.

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New research from the University of Texas at San Antonio may offer relief for the millions of couples dealing with infertility or trouble conceiving. The team of scientists has developed a high-resolution genetic map that shows how men produce sperm cells. This effort may drastically address the problem of male infertility, a major cause of difficulty conceiving.

The findings reveal detailed information about which genes are turned on or off in stem cells that ultimately grow into sperm cells. The data gives doctors crucial insight into how sperm develops in individual patients. This viewpoint was previously non-existent.

Researcher Brian Hermann believes that this new information could be a game changer for helping men uncover what has gone wrong resulting in infertility.

“We took a new, cutting-edge approach down to the level of individual cells to understand all the changes in which genes are used to make sperm in the testicles. That previously had not been possible and impedes progress toward a cure for male infertility,” said Hermann, a biology professor and director of the UTSA Genomics Core.

The research, published in the journal Cell Reports, was conducted by a team at UTSA and around the country. Together, they built a comprehensive digital library of the different cell types required for sperm production in both mice and in men. They examined more than 62,000 cells during the process and identified 11 unique gene expression profiles. Their research even uncovered new rare cells for which there was little data reported. The study, beginning in 2014, was supported by the Kleberg Foundation, the Hurd Foundation and the National Institutes of Health (NIH).

According to the NIH, at least half of infertility cases among couples are related to male reproductive problems. Many of these cases are treated with medication but some require surgical procedures. Yet, in nearly half of all of these cases, the cause is a mystery.

The digital roadmap from the team at UTSA was constructed by sequencing gene expression in germ cells. They used high-tech machines to examine tens of thousands of cells and produce a library of genes expressed in each one. The process took one to two days per group. They also used cutting-edge bioinformatics and data analysis to decode gene expression data generated from cells.

“This is how we find the needles in the haystack,” said Hermann. “We weren’t previously able to separate different cells with different functions, so in order to understand exactly how they are different, we looked at individual single cells, instead of the typical way of grabbing them all in bulk as a group.”

This new library of gene expression offers many different possibilities. For one, it could help diagnosing men with infertility more accurately. It could also help make developing sperm outside of the body possible. Finally, the research provides a foundation for future studies to build on.

“It’s been a dream for decades to take the most primitive cells in the testis and convert them into sperm in a petri dish, yet this has never worked,” said Hermann. “If anyone is going to generate sperm cells in a dish, they’d want to know how similar those cells are to those that occur naturally in the body. The data we have generated now provides a reference library for comparison.”

 

Based on Science Daily

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