Featured Research

from universities, journals, and other organizations

Genetic alteration linked with human male infertility

Date:
September 30, 2010
Source:
Cell Press
Summary:
One in seven couples worldwide has difficulty conceiving a child, and male infertility is thought to account for nearly half of those cases. Although the cause of male infertility is often unknown, scientists have now discovered a genetic alteration that disrupts sperm production in otherwise healthy men. The research provides new insight into one cause of male infertility.

One in seven couples worldwide has difficulty conceiving a child, and male infertility is thought to account for nearly half of those cases. Although the cause of male infertility is often unknown, scientists have now discovered a genetic alteration that disrupts sperm production in otherwise healthy men. The research, published on September 30th in the American Journal of Human Genetics, provides new insight into one cause of male infertility.

Related Articles


"Many genes are known to be essential for the production of sperm, but there are surprisingly few single gene changes that have been conclusively demonstrated to cause a failure of sperm production in humans," explains senior study author, Dr. Ken McElreavey from the Pasteur Institute in France. Dr. McElreavey, along with co-authors Dr. Anu Bashamboo and Dr. John Achermann, a Wellcome Trust Senior Fellow from UCL Institute of Child Health London, examined whether the NR5A1 gene might be involved in some cases of male infertility.

The NR5A1 gene codes for a key protein called steroidogenic factor 1 that regulates fetal, prepubertal and adult sexual development. Previous work had shown that NR5A1 mutations are associated with severe defects in the development of the testes or ovaries as well as significant anomalies of the male external genitalia. Dr. McElreavey's group sequenced the NR5A1 gene in 315 healthy men seeking infertility treatment, who exhibited an unexplained failure to produce sperm.

"We identified seven men with severe failure to produce sperm who carried changes in the NR5A1 gene," says Dr. Bashamboo. The researchers went on to show that the mutations impaired the ability of the steroidogenic factor 1 protein to regulate the transcription of key reproductive genes. The mutations were associated with altered levels of sex hormones and, in the one case studied, mild abnormalities in the cellular structure of the testes. Similar genetic alterations were not observed in more than 2000 control samples.

These findings suggest that changes in NR5A1 are not just associated with severe and obvious defects in reproductive development. "We conclude the approximately 4% of men with otherwise unexplained failure to produce sperm carry mutations in the NR5A1 gene," says Dr. Bashamboo. "Our data also suggest that some forms of male infertility may be an indicator of a mild abnormality in testicular development, underlining a need for careful clinical investigation of men presenting with infertility and abnormal levels of sex hormones."


Story Source:

The above story is based on materials provided by Cell Press. Note: Materials may be edited for content and length.


Journal Reference:

  1. Anu Bashamboo, Bruno Ferraz-de-Souza, Diana Lourenηo, Lin Lin, Neil J. Sebire, Debbie Montjean, Joelle Bignon-Topalovic, Jacqueline Mandelbaum, Jean-Pierre Siffroi, Sophie Christin-Maitre et al. Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1. American Journal of Human Genetics, 30 September 2010 DOI: 10.1016/j.ajhg.2010.09.009

Cite This Page:

Cell Press. "Genetic alteration linked with human male infertility." ScienceDaily. ScienceDaily, 30 September 2010. <www.sciencedaily.com/releases/2010/09/100930142713.htm>.
Cell Press. (2010, September 30). Genetic alteration linked with human male infertility. ScienceDaily. Retrieved December 18, 2014 from www.sciencedaily.com/releases/2010/09/100930142713.htm
Cell Press. "Genetic alteration linked with human male infertility." ScienceDaily. www.sciencedaily.com/releases/2010/09/100930142713.htm (accessed December 18, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, December 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

AFP (Dec. 17, 2014) — Border closures, quarantines and crop losses in West African nations battling the Ebola virus could lead to as many as one million people going hungry, UN food agencies said on Wednesday. Duration: 00:52 Video provided by AFP
Powered by NewsLook.com
When You Lose Weight, This Is Where The Fat Goes

When You Lose Weight, This Is Where The Fat Goes

Newsy (Dec. 17, 2014) — Can fat disappear into thin air? New research finds that during weight loss, over 80 percent of a person's fat molecules escape through the lungs. Video provided by Newsy
Powered by NewsLook.com
Why Your Boss Should Let You Sleep In

Why Your Boss Should Let You Sleep In

Newsy (Dec. 17, 2014) — According to research out of the University of Pennsylvania, waking up for work is the biggest factor that causes Americans to lose sleep. Video provided by Newsy
Powered by NewsLook.com
Flu Outbreak Closing Schools in Ohio

Flu Outbreak Closing Schools in Ohio

AP (Dec. 17, 2014) — A wave of flu illnesses has forced some Ohio schools to shut down over the past week. State officials confirmed one pediatric flu-related death, a 15-year-old girl in southern Ohio. (Dec. 17) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins