Male Infertility Traced to Missing Gene

Lack of a gene that produces the “MC2 protein,” which is critical for creating a functional connection between the sperm head and tail, can result in male infertility, reveals a mice study from the University of Gothenburg (1^✔ ✔Trusted Source
Preserving Genetic Integrity in Reproduction: Insights from Telomere Protection and Sperm Head-Tail Junctions

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Genetic Causes of Male Infertility

“The connection is located in the ‘neck’ of the sperm head and facilitates coordinated movement and function as the sperm swims towards the egg. Certainly, the tail and head will each be created perfectly without such a connection – but to no avail, as they will be unable to reach their target,” says Kexin Zhang, a doctoral student at the Department of Chemistry and Molecular Biology at the University of Gothenburg.
Experiments on mice indicated to Kexin Zhang and her research colleagues that the production of the MC2 protein was controlled by a specific gene in the genome. When the gene was removed using genetic scissors, the researchers saw that the mice stopped producing the protein and became completely infertile.

The gene is not on the sex chromosome and has no impact on the females’ ability to produce offspring.

“My research helped to enhance understanding of the causes of infertility due to the absence of the head of the sperm, which is known as acephalic spermatozoa syndrome. The underlying cause of this diagnosis has been unknown until now,” says Kexin Zhang.

The discovery of the MC2 protein provides new insights into the molecular structure of sperm cells that then develop into spermatozoa. Researchers will be able to study these insights further.

“It is estimated that some 15 percent of all heterosexual couples have problems with having children. The man is responsible for the problems in about half of these cases. I hope our research will eventually lead to new diagnostic methods and new treatments for male infertility. It may also be possible to create a male contraceptive by switching off this gene,” says Kexin Zhang.

Reference:

1. Preserving Genetic Integrity in Reproduction: Insights from Telomere Protection and Sperm Head-Tail Junctions – (https://gupea.ub.gu.se/handle/2077/78734)

Source-Eurekalert