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)... Lafayette, California (PRWEB) , ... ... ... a pioneer in the patient payment industry today announced its strategic partnership ... and health system workflows. , The two companies’ proven, proprietary technology combine ...
(Date:6/26/2016)... ... June 27, 2016 , ... Quality metrics are proliferating in cancer ... they remain in the eye of the beholder, according to experts who offered insights ... American Journal of Managed Care. For the full issue, click here . , ...
(Date:6/26/2016)... North Carolina (PRWEB) , ... June 26, 2016 , ... ... release of a new product that was developed to enhance the health of felines. ... for centuries. , The two main herbs in the PawPaws Cat Kidney Support ...
(Date:6/25/2016)... ... June 25, 2016 , ... ... and applications at AcademyHealth’s Annual Research Meeting June 26-28, 2016, at the Hynes ... important health care topics including advance care planning, healthcare costs and patient and ...
(Date:6/25/2016)... ... June 25, 2016 , ... "With 30 hand-drawn hand gesture animations, ... Christina Austin - CEO of Pixel Film Studios. , ProHand Cartoon’s package transforms ... Final Cut Pro X . Simply select a ProHand generator and drag it above ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... , June 23, 2016  MedSource announced today ... its e-clinical software solution of choice.  This latest ... possible value to their clients by offering a ... preferred relationship establishes nowEDC as the EDC platform ... MedSource,s full-service clients.  "nowEDC has long been a ...
(Date:6/23/2016)... Any dentist who has made an implant supported ... Many of them do not even offer this as a ... laboratory costs involved. And those who ARE able to offer ... high cost that the majority of today,s patients would not ... Zadeh , founder of Dental Evolutions Inc. and inventor of ...
(Date:6/23/2016)... startling report released today, National Safety Council research shows ... plan to eliminate prescription opioid overdoses. Prescription Nation ... the worst drug crisis in recorded U.S. history, assigned a "Making ... , New Mexico , Tennessee ... states, three – Michigan , Missouri ...
Breaking Medicine Technology: