Medical Research Council - London Institute of Medical Sciences

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Not Going Swimmingly

Mutation in the CEP78 gene damages sperm production and underlies male infertility

03 November 2022

Not Going Swimmingly

Although the average pair of human testicles produces 1,500 sperm per second, it’s a complex process involving thousands of genes. If something goes wrong, it can lead to infertility, a health problem affecting about 7% of the male population. We need to improve our understanding of male infertility: around 40% of cases have an unknown cause. Here, we see a healthy sperm (left) and four abnormal sperm from an infertile male with a mutation in the CEP78 gene (right). Researchers discovered damage in this gene when comparing the patient's DNA to his relatives. CEP78 helps to form the centrosome, a subcellular structure vital for sperm production and fertilisation. When the scientists removed the CEP78 gene from mice, the males produced fewer sperm with the same defects seen in humans. Identifying the role of CEP78 in male fertility may one day help us to treat the condition.

Written by Henry Stennett

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