Gene crucial to sperm cell production discovered

Scientists at Cincinnati Children’s Hospital appear to have flipped another piece in the under-explored puzzle of male infertility.

In findings published in Cell Reports, senior author Tony De Falco, Ph.D., sheds new light on how sperm production can go wrong when a certain gene fails to function at the right time.

This new research “provides key information for using this gene as a potential biomarker for infertility or reduced testicular function,” De Falco says.

The study focuses on the function of Sertoli cells, inside the testes, in which sperm production takes place. Sertoli cells, sometimes called “nurse cells,” act as docking stations that provide nutrients to developing sperm cells.

In experiments with mouse models, the team found that when the gene Cdc42 is missing or not functioning, it disrupts the polarity of Sertoli cells, meaning that some might be attached or oriented improperly. The misaligned cells become less capable of supporting sperm cells, and some of the misaligned Sertoli cells die off themselves, all of which reduces the ability of the testes to produce an ongoing supply of sperm.

This knowledge may support developing improved diagnostic tests to better identify specific causes of male infertility. Currently, diagnosis of Sertoli cell malfunction generally requires a biopsy. Potentially, if a non-invasive test could show that a child has a high risk of developing misaligned Sertoli cells in adulthood, the person could benefit from testicular or sperm biobanking.

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