Featured Research

from universities, journals, and other organizations

Patterns Of Genetic Changes In Mental Retardation Uncovered

Date:
June 29, 2009
Source:
Public Library of Science
Summary:
Researchers have uncovered some of the central characteristics of genes underlying mental retardation. The research shortens the list of genes whose changes lead to this disorder from thousands to several dozen.

Researchers at Radboud University Medical Centre, together with UK Medical Research Council scientists at Oxford University, have uncovered some of the central characteristics of genes underlying mental retardation. The research shortens the list of genes whose changes lead to this disorder from thousands to several dozen.

Mental retardation, which affects approximately two percent of the population, is often caused by many different, yet individually rare DNA deletions and duplications. Pinpointing the DNA changes responsible has proven challenging precisely because these changes are not concentrated in a small number of genes.

The scientists took DNA from over 150 individuals with mental retardation and compared it with descriptions of 5,000 mice whose genomes each had single genes disrupted. The researchers found that the DNA changes associated with mental retardation contained greater than expected numbers of genes whose loss in mice also affected the nervous system. The large amounts of data from humans and mice were critical in revealing a relatively small set of genes that are relevant to mental retardation in humans.

This study provides strong evidence that genomic deletions and duplications frequently cause mental retardation. By narrowing down the list of genes linked to the disorder, the research will help to enable genetic testing and diagnosis. In the future, the approach used in this study could also prove effective in highlighting genes altered in other medical conditions such as schizophrenia and autism.

The following organisations provided funding for this work: UK Medical Research Council, Berrow Lord Florey scholarship, the Swiss National Science Foundation, the Netherlands Organisation for Health Research and Development, and the EU-sponsored AnEUploidy project. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.


Story Source:

The above story is based on materials provided by Public Library of Science. Note: Materials may be edited for content and length.


Journal Reference:

  1. Webber C, Hehir-Kwa JY, Nguyen D-Q, de Vries BBA, Veltman JA, et al. Forging Links between Human Mental Retardation%u2013Associated CNVs and Mouse Gene Knockout Models. PLoS Genet, 5(6): e1000531 DOI: 10.1371/journal.pgen.1000531

Cite This Page:

Public Library of Science. "Patterns Of Genetic Changes In Mental Retardation Uncovered." ScienceDaily. ScienceDaily, 29 June 2009. <www.sciencedaily.com/releases/2009/06/090625210421.htm>.
Public Library of Science. (2009, June 29). Patterns Of Genetic Changes In Mental Retardation Uncovered. ScienceDaily. Retrieved September 20, 2014 from www.sciencedaily.com/releases/2009/06/090625210421.htm
Public Library of Science. "Patterns Of Genetic Changes In Mental Retardation Uncovered." ScienceDaily. www.sciencedaily.com/releases/2009/06/090625210421.htm (accessed September 20, 2014).

Share This



More Health & Medicine News

Saturday, September 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Sierra Leone's Nationwide Ebola Curfew Underway

Sierra Leone's Nationwide Ebola Curfew Underway

Newsy (Sep. 20, 2014) Sierra Leone is locked down as aid workers and volunteers look for new cases of Ebola. Video provided by Newsy
Powered by NewsLook.com
Changes Found In Brain After One Dose Of Antidepressants

Changes Found In Brain After One Dose Of Antidepressants

Newsy (Sep. 19, 2014) A study suggest antidepressants can kick in much sooner than previously thought. Video provided by Newsy
Powered by NewsLook.com
Could Grief Affect The Immune Systems Of Senior Citizens?

Could Grief Affect The Immune Systems Of Senior Citizens?

Newsy (Sep. 19, 2014) The study found elderly people are much more likely to become susceptible to infection than younger adults going though a similar situation. Video provided by Newsy
Powered by NewsLook.com
Jury Delivers Verdict in Salmonella Trial

Jury Delivers Verdict in Salmonella Trial

AP (Sep. 19, 2014) A federal jury has convicted three people in connection with an outbreak of salmonella poisoning five years ago that sickened hundreds of people and was linked to a number of deaths. (Sept. 19) 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:
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