Featured Research

from universities, journals, and other organizations

Common genetic disease linked to father's age

Date:
June 7, 2013
Source:
University of Southern California
Summary:
Scientists have unlocked the mystery of why new cases of the genetic disease Noonan syndrome are so common; a mutation that causes the disease disproportionately increases a normal father's production of sperm carrying the disease trait.

Scientists at USC have unlocked the mystery of why new cases of the genetic disease Noonan Syndrome are so common: a mutation that causes the disease disproportionately increases a normal father's production of sperm carrying the disease trait.

When this Noonan syndrome mutation arises in a normal sperm stem cell it makes that cell more likely to reproduce itself than stem cells lacking the mutation. The father then is more likely to have an affected child because more mutant stem cells result in more mutant sperm. The longer the man waits to have children the greater the chance of having a child with Noonan syndrome.

Noonan Syndrome is among the most common genetic diseases with a simple inheritance pattern. About one of every 4,000 live births is a child with a new disease mutation. The disease can cause craniofacial abnormalities, short stature, heart defects, intellectual disability and sometimes blood cancers.

By examining the testes from 15 unaffected men, a team led by USC molecular and computational biologists Norman Arnheim and Peter Calabrese found that the new mutations were highly clustered in the testis, and that the overall proportion of mutated stem cells increased with age. Their computational analysis indicated that the mutation gave a selective edge over non-mutated cells.

"There is competition between stem cells with and without the mutation in each individual testis," said Arnheim, who has joint appointments at the USC Dornsife College of Letters, Arts and Sciences and the Keck School of Medicine of USC. "But what is also unusual in this case is that the mutation which confers the advantage to testis stem cells is disadvantageous to any offspring that inherits it."

The new findings also suggest an important new molecular mechanism to explain how certain genetic disease mutations can alter sperm stem cell function leading to exceptionally high frequencies of new cases every generation.


Story Source:

The above story is based on materials provided by University of Southern California. Note: Materials may be edited for content and length.


Journal Reference:

  1. Song-Ro Yoon, Soo-Kung Choi, Jordan Eboreime, BruceD. Gelb, Peter Calabrese, Norman Arnheim. Age-Dependent Germline Mosaicism of the Most Common Noonan Syndrome Mutation Shows the Signature of Germline Selection. The American Journal of Human Genetics, 2013; 92 (6): 917 DOI: 10.1016/j.ajhg.2013.05.001

Cite This Page:

University of Southern California. "Common genetic disease linked to father's age." ScienceDaily. ScienceDaily, 7 June 2013. <www.sciencedaily.com/releases/2013/06/130607131014.htm>.
University of Southern California. (2013, June 7). Common genetic disease linked to father's age. ScienceDaily. Retrieved September 17, 2014 from www.sciencedaily.com/releases/2013/06/130607131014.htm
University of Southern California. "Common genetic disease linked to father's age." ScienceDaily. www.sciencedaily.com/releases/2013/06/130607131014.htm (accessed September 17, 2014).

Share This



More Health & Medicine News

Wednesday, September 17, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Obesity Rates Steady Even As Americans' Waistlines Expand

Obesity Rates Steady Even As Americans' Waistlines Expand

Newsy (Sep. 17, 2014) Researchers are puzzled as to why obesity rates remain relatively stable as average waistlines continue to expand. Video provided by Newsy
Powered by NewsLook.com
President To Send 3,000 Military Personnel To Fight Ebola

President To Send 3,000 Military Personnel To Fight Ebola

Newsy (Sep. 16, 2014) President Obama is expected to send 3,000 troops to West Africa as part of the effort to contain Ebola's spread. Video provided by Newsy
Powered by NewsLook.com
Obama Orders Military Response to Ebola

Obama Orders Military Response to Ebola

AP (Sep. 16, 2014) Calling the Ebola outbreak in West Africa a potential threat to global security, President Barack Obama is ordering 3,000 U.S. military personnel to the stricken region amid worries that the outbreak is spiraling out of control. (Sept. 16) Video provided by AP
Powered by NewsLook.com
UN: 20,000 Could Be Infected With Ebola by Year End

UN: 20,000 Could Be Infected With Ebola by Year End

AFP (Sep. 16, 2014) Nearly $1.0 billion dollars is needed to fight the Ebola outbreak raging in west Africa, the United Nations say, warning that 20,000 could be infected by year end. Duration: 00:40 Video provided by AFP
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:
from the past week

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