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.

Related Articles


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 November 25, 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 November 25, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Tuesday, November 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

Newsy (Nov. 25, 2014) The US FDA is announcing new calorie rules on Tuesday that will require everywhere from theaters to vending machines to include calorie counts. Video provided by Newsy
Powered by NewsLook.com
Madagascar Working to Contain Plague Outbreak

Madagascar Working to Contain Plague Outbreak

AFP (Nov. 24, 2014) Madagascar said Monday it is trying to contain an outbreak of plague -- similar to the Black Death that swept Medieval Europe -- that has killed 40 people and is spreading to the capital Antananarivo. Duration: 00:42 Video provided by AFP
Powered by NewsLook.com
Are Female Bosses More Likely To Be Depressed?

Are Female Bosses More Likely To Be Depressed?

Newsy (Nov. 24, 2014) A new study links greater authority with increased depressive symptoms among women in the workplace. Video provided by Newsy
Powered by NewsLook.com
Winter Can Cause Depression — Here's How To Combat It

Winter Can Cause Depression — Here's How To Combat It

Newsy (Nov. 23, 2014) Millions of American suffer from seasonal depression every year. It can lead to adverse health effects, but there are ways to ease symptoms. Video provided by Newsy
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