Navigation Links
Common genetic disease linked to father's age
Date:6/7/2013

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.


'/>"/>

Contact: Robert Perkins
perkinsr@usc.edu
213-740-9226
University of Southern California
Source:Eurekalert

Page: 1

Related biology news :

1. Commonly used herbicides seen as threat to endangered butterflies
2. Common North American frog identified as carrier of deadly amphibian disease
3. Researchers uncover molecular pathway through which common yeast becomes fungal pathogen
4. New research about facial recognition turns common wisdom on its head
5. Commonly used diabetes drug may help to prevent primary liver cancer
6. Loyola study debunks common myth that urine is sterile
7. Dental X-rays linked to common brain tumor
8. Women & Infants participating in study of treatment of common viral infection in pregnancy
9. Clusters of cooperating tumor-suppressor genes are found in large regions deleted in common cancers
10. Modest alcohol intake associated with less inflammation in patients with common liver disease
11. Sulphur and iron compounds common in old shipwrecks
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/22/2016)... On Monday, the Department of Homeland Security (DHS) issued ... the Biometric Exit Program. The Request for Information (RFI), ... that CBP intends to add biometrics to confirm when ... , in order to deter visa overstays, to ... Logo - http://photos.prnewswire.com/prnh/20160622/382209LOGO ...
(Date:6/20/2016)... Securus Technologies, a leading provider of ... safety, investigation, corrections and monitoring announced that after ... secured the final acceptance by all three (3) ... Systems (MAS) installed. Furthermore, Securus will have contracts ... by October, 2016. MAS distinguishes between legitimate wireless ...
(Date:6/15/2016)... New York , June 15, 2016 /PRNewswire/ ... a new market report titled "Gesture Recognition Market by ... and Forecast, 2016 - 2024". According to the report, ... USD 11.60 billion in 2015 and is estimated ... reach USD 48.56 billion by 2024.  ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... , June 23, 2016 ... Review, 2016;12(1):22-8 http://doi.org/10.17925/OHR.2016.12.01.22 Published ... the peer-reviewed journal from touchONCOLOGY, Andrew D ... cost of cancer care is placing an increasing ... of expensive biologic therapies. With the patents on ...
(Date:6/23/2016)... ... 23, 2016 , ... ClinCapture, the only free validated electronic ... showcase its product’s latest features from June 26 to June 30, 2016 for ... Disrupting Clinical Trials in The Cloud during the conference. DIA (Drug Information ...
(Date:6/23/2016)... ... June 23, 2016 , ... Velocity Products, a division ... tuned and optimized exclusively for Okuma CNC machining centers at The International Manufacturing ... collaboration among several companies with expertise in toolholding, cutting tools, machining dynamics and ...
(Date:6/23/2016)... PUNE, India , June 23, 2016 /PRNewswire/ ... culture media market research report to its pharmaceuticals ... company profiles, product details and much more. ... market spread across 151 pages, profiling 15 companies ... now available at http://www.reportsnreports.com/reports/601420-global-cell-culture-media-industry-2016-market-research-report.html . ...
Breaking Biology Technology: