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:10/12/2017)... ... October 12, 2017 , ... ... healthcare compliance program management, will showcase a range of technology and learning solutions ... Living (NCAL) Convention and Expo to be held October 14–18, 2017 at the ...
(Date:10/12/2017)... , ... October 12, 2017 , ... ... to meet the demand of today’s consumer and regulatory authorities worldwide. From Children’s ... experts and tested to meet the highest standard. , These products are ...
(Date:10/12/2017)... (PRWEB) , ... October 12, 2017 , ... ... AccentCare, a leader in post-acute health care, have expanded their existing home health ... Home Health. , AccentCare has been operating a joint venture home health company ...
(Date:10/12/2017)... ... ... HMP , a leader in healthcare events and education, today announced that ... ‘Best B-to-B Healthcare Website.’ Winners were announced during the Eddie & Ozzie Awards luncheon ... editorial and design excellence across a range of sectors. This year’s program included the ...
(Date:10/12/2017)... ... October 12, 2017 , ... Women-owned and Grand ... Best and Brightest in Wellness® by Best and Brightest. OnSite Wellness will be ... Oct. 20 from 7:30 a.m. to 2 p.m. at the Henry Autograph Collection ...
Breaking Medicine News(10 mins):
(Date:10/12/2017)... -- AVACEN Medical , Inc. (AVACEN) announced that Frost ... Product Innovation Award for Its fibromyalgia pain management device. ... device market research by Frost & Sullivan,s industry experts. ... relief product, the AVACEN 100, offers a safe and effective ... ...
(Date:10/11/2017)... Texas , Oct. 11, 2017  True ... services, has amplified its effort during National Breast ... about hereditary cancer risks. ... of Clinical Oncology calculated that more than 10 ... have inherited mutations in BRCA1 or BRCA2 and have ...
(Date:10/5/2017)... Oct. 5, 2017  In response to the ... and Maxillofacial Surgeons (AAOMS) released prescribing recommendations that ... be used as a first-line therapy to manage ... Recognizing the value and ... Paper "Opioid Prescribing: Acute and Postoperative Pain Management" ...
Breaking Medicine Technology: