Navigation Links
Genetic Glitch Tied to Disrupted Sperm Production
Date:9/30/2010

By Kathleen Doheny
HealthDay Reporter

THURSDAY, Sept. 30 (HealthDay News) -- The cause of male infertility often escapes experts, but scientists have found a genetic mutation that appears to disrupt sperm production.

"This may be the most frequent single gene defect that is associated with male infertility known to date, with 4 percent of men with unexplained severe spermatogenic failure carrying a mutation," said Kenneth McElreavey, a researcher at the Pasteur Institute in France and a member of the team that made the discovery.

The gene, NR5A1, has been associated with other reproductive problems, McElreavey noted. "Studies in the last 10 years have linked mutations involving NR5A1 to defects in the development of external genitalia in boys," he said. "Last year, we identified mutations in this gene associated with a range of reproductive problems in women."

The new study links mutations in the same gene with reduced sperm count, which can lead to male infertility problems.

Male infertility is believed to account for nearly half of all infertility cases. Worldwide, about one in seven couples has problems with infertility and conception, according to the study.

McElreavey and his colleagues reported the findings online Sept. 30 in the American Journal of Human Genetics.

The researchers sequenced the gene in 315 healthy men who sought treatment for infertility because of an unexplained failure to produce sperm. They found seven men with a severe sperm production problem who carried a mutation in the gene. The defect was not found in more than 2,000 samples from a control group, for comparison.

The carriers of the mutation, McElreavey said, "may have a progressive reduction in sperm quality and quantity over time."

However, some men may be affected more than others if the findings in women -- "some women carriers of the mutations have no obvious reproduction [defects]," he said -- also hold true in men. The difference may stem from other genetic or environmental factors, he explained.

In the future, McElreavey added, those identified as carriers might be counseled to start a family earlier rather than later, if suspicions about the progressive nature of the defect bear out.

What's not known is whether other genes regulated by NR5A1 are also contributing to sperm production problems, he said.

Dr. Robert Oates, a urology professor at Boston University School of Medicine, described the study as scientifically very sound but offered some caveats.

The researchers found a link, but not cause and effect, he pointed out. And, the finding has no immediate practical application. "There's no commercial test for this [mutation] at this point," Oates said.

As good as the science is, Oates noted, the finding must be duplicated by other experts, in scientific fashion.

For now, he said, the finding might help convince some infertility doctors not to push men to start treatment right away, without first looking for possible causes of the infertility.

More information

The American Society for Reproductive Medicine has more about infertility.

SOURCES: Kenneth McElreavey, Ph.D., researcher, Pasteur Institute, Paris; Robert D. Oates, M.D., professor, urology, Boston University School of Medicine, Boston; Sept. 30, 2010, American Journal of Human Genetics, online


'/>"/>
Copyright©2010 ScoutNews,LLC.
All rights reserved  

Related medicine news :

1. No link between genetic ancestry, asthma response in African-Americans
2. Team of researchers finds possible new genetic risk for Alzheimers disease
3. Genetic factor in osteoporosis discovered
4. FDA Advisers Consider Approval of Genetically Modified Salmon
5. UNC researchers identify genetic patterns that may predict osteoarthritis
6. FDA Advisers Weigh Approval of Genetically Modified Salmon
7. Mayo-led researchers discover genetic variants modifying breast cancer risk
8. 2 studies find new genetic links to ovarian cancer risk
9. New On the Menu: Genetically Modified Salmon?
10. Scientists map epigenetic changes during blood cell differentiation
11. Male breast cancer in family leads to high perception of risk, low likelihood of genetic counseling
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Genetic Glitch Tied to Disrupted Sperm Production
(Date:6/27/2016)... Aliso Viejo, California (PRWEB) , ... June 27, 2016 , ... ... that are fully customizable inside of Final Cut Pro X," said Christina Austin - ... with another unique style. Final Cut Pro X users can now reveal ...
(Date:6/27/2016)... ... June 27, 2016 , ... ... its strategic partnership with Connance, a healthcare industry leader providing predictive analytics ... proprietary technology combine to provide health systems, hospitals and ambulatory surgical centers ...
(Date:6/27/2016)... ... June 27, 2016 , ... TopConsumerReviews.com recently awarded their highest five-star rating ... Millions of individuals in the United States and Canada wear eyeglasses. Once considered to ... correct vision and make a fashion statement. Even celebrities use glasses as a way ...
(Date:6/26/2016)... Battle Creek, Michigan (PRWEB) , ... June 26, 2016 , ... ... abuse, joined as sponsor of the 2016 Cereal Festival and World’s Longest Breakfast Table ... held in honor of the city’s history as home to some of the world’s ...
(Date:6/26/2016)... ... June 26, 2016 , ... PawPaws brand pet supplements owned ... developed to enhance the health of felines. The formula is all-natural and is made ... in the PawPaws Cat Kidney Support Supplement Soft Chews are Astragalus Root ...
Breaking Medicine News(10 mins):
(Date:6/26/2016)... , June 27, 2016 Jazz Pharmaceuticals ... waiting period under the Hart-Scott-Rodino Antitrust Improvements Act of ... acquisition of Celator Pharmaceuticals, Inc. ("Celator"; Nasdaq: ... p.m. (Eastern Daylight Time). As previously announced ... into a definitive merger agreement under which Jazz Pharmaceuticals ...
(Date:6/24/2016)... SAN FRANCISCO, Calif. , June 24, 2016 ... GBT ), a biopharmaceutical company developing novel therapeutics ... significant unmet needs, today announced the closing of ... shares of common stock, at the public offering ... shares in the offering were offered by GBT. ...
(Date:6/24/2016)... June 24, 2016 Dehaier Medical Systems Ltd. ... which develops, markets and sells medical devices and wearable ... signed a strategic cooperation agreement with Hongyuan Supply Chain ... Chain") on June 20, 2016, to develop Dehaier,s new ... cooperation agreement, Dehaier will leverage Hongyuan Supply Chain,s sales ...
Breaking Medicine Technology: