Mouse Study Defines Gene's Role in Creating Viable Sperm

Jhdm2a plays key role in DNA 'packaging'; finding may be helpful in human infertility

MONDAY, Oct. 22 (HealthDay News) -- A study in mice describing the role of a particular gene in spermiogenesis may shed light on a cause of some cases of infertility in human males. The research was published online Oct. 17 in the journal Nature.

Yuki Okada, Ph.D., of the University of North Carolina at Chapel Hill, and colleagues used mice that were engineered to lack a gene called Jhdm2a, which helps DNA to become tightly packaged within the head of a sperm, allowing it to penetrate an egg.

These mice were infertile, had a lower sperm count and small testes. The sperm they did produce typically had abnormally shaped heads and immotile tails. The researchers used electron microscopy and acridine orange staining, which offers information on the packaging state of the DNA by whether the sperm fluoresce both green and red or just green.

"Defects in this gene could be the cause for some cases of male infertility," said senior author Yi Zhang, Ph.D., of the University of North Carolina School of Medicine, in a prepared statement. "Because this gene has a very specific effect on the development of functional sperm, it holds great potential as a target for new infertility treatments that are unlikely to disrupt other functions within the body." The investigators are now studying infertility patients to detect mutations in this gene and to identify the partners or cofactors in the cell that allow the gene to function properly.

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