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Gene linked to male infertility found

Catherine McDiarmid-Watt | Sunday, November 18, 2007 | 1 comments

CHICAGO - A single gene may be crucial for the final stages of sperm cell formation and could help explain why some men are infertile, U.S. researchers said on Wednesday.

Laboratory mice who lacked the gene had a significantly lower sperm count and were infertile, researchers at the University of North Carolina at Chapel Hill discovered.

And the few sperm the mice did produce had significant defects, they said.

“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,” Yi Zhang, a professor of biochemistry and biophysics at the university’s school of medicine, said in a statement.

About 1 in 6 couples in the United States has difficulty conceiving a child, according to the National Institutes of Health. In 30 to 40 percent of these 2.6 million couples, the men are infertile.

Zhang’s study, which appears in the journal Nature, focused on the last stage of sperm cell formation known as spermiogenesis. During this phase, DNA is crammed into a tight ball at the head of the sperm, ensuring that it can successfully penetrate an egg.

Mice bred to lack a gene responsible for this process produced few mature sperm, and the few that were produced had abnormally shaped heads and immobile tails.

“This gene is very important in controlling key genes that are involved in compacting the DNA,” Zhang said in a telephone interview.

In the mutant mice, Zhang and colleagues detected a defect in sperm DNA packaging. The mice also had smaller testes, but Zhang said this was because the testes were not filled with sperm as they should be.

He said more work needed to be done to discover whether this same defect causes infertility in men.

“The first thing we need to know is whether people have mutations of this gene,” said Zhang, who plans to team up with researchers studying this infertility syndrome in humans.

Ultimately, he said this discovery could lead to the development of a drug that compensates for mutations in the gene.

“That possibility is there, but it is not going to happen tomorrow,” Zhang said.

The research was funded by the Howard Hughes Medical Institute and the National Institutes of Health.


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About Catherine: I am mom to three grown sons, two grandchildren and two rescue dogs. After years of raising my boys as a single mom, I remarried a wonderful man who had never had a child of his own. Unexpectedly, I found myself pregnant at 49!
Sadly we lost that precious baby at 8 weeks, and decided to try again. Five more losses, turned down for donor egg, foster care and adoption due to my age and losses - we have accepted that there will be no more babies in our house.

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  1. Anonymous says:

    You don't need to print this response, but you should know about the connection.

    Father's age can lead to miscarriage
    August 3, A couple's risk of having a pregnancy end in miscarriage appears to rise along with the father's age, regardless of how old the mother is, researchers have reported.

    Their study of nearly 14,000 women who were pregnant in the 1960s and '70s found that the risk of miscarriage was 60 per cent greater when the father was aged 40 or older than when he was 25 to 29.

    What's more, age made a difference even for men in their 30s. Miscarriage risk was about three times greater when the man was between 35 and 39 than if he were younger than 25.

    These risks were all independent of the mother's age, a well-known factor in miscarriage. The findings add to evidence showing men also have a biological clock.

    - Published in Obstetrics & Gynecology, reported by Reuters.

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