Scientists at the Stowers Institute have found that a point mutation in the SYCP1 gene may be the reason why some men fail to produce enough sperm to fertilize an egg. Drugs that target the defective protein this gene is responsible for producing could be groundbreaking in the treatment of infertility. The research was published in the journal Science Developments.
In most sexually reproducing species, including humans, to produce sperm and eggs the body must build the synaptonemal complex, a protein structure that resembles the ethmoid bridge. It is responsible for keeping chromosome pairs in place during sperm and egg formation. In a new study, scientists modeled how various mutations might affect its structure.
In an experiment on mice, scientists identified a mutation in the SYCP1 gene that interfered with the formation of the synaptonemal complex. Its destruction meant that men could not produce sperm.
Millions of couples worldwide suffer from infertility, and half of the cases are related to men’s health. 10% of infertile men produce little or no sperm. Scientists believe that impaired sperm production in humans may also be associated with the SYCP1 mutation.
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