Featured Research

from universities, journals, and other organizations

Common thread links multiple human cognitive disorders

Date:
February 15, 2010
Source:
Cell Press
Summary:
A new study reveals that a common underlying mechanism is shared by a group of previously unrelated disorders which all cause complex defects in brain development and function. It helps to explain why these different chromatin abnormalities all interfere with proper gene expression patterns necessary for normal development and mature brain function.

A new study reveals that a common underlying mechanism is shared by a group of previously unrelated disorders which all cause complex defects in brain development and function. Rett syndrome (RTT), Cornelia de Lange syndrome (CdLS) and Alpha-Thalassemia mental Retardation, X-linked syndrome (ATR-X) have each been linked with distinct abnormalities in chromatin, the spools of proteins and DNA that make up chromosomes and control how genetic information is read in a cell.

Related Articles


Now, research, published in the February 16th issue of the journal Developmental Cell, helps to explain why these different chromatin abnormalities all interfere with proper gene expression patterns necessary for normal development and mature brain function.

"Although clearly distinct from one another, human developmental disorders that are linked with chromatin dysfunction often share similar cognitive clinical features," explains senior study author, Dr. Nathalie Bιrubι from the University of Western Ontario. "Whether the overlapping cognitive symptoms are due to underlying interlinked molecular mechanisms is still poorly understood." Her work now demonstrates that chromatin proteins defective in RTT, CdLS, and ATR-X syndromes are all associated with each other -- and are required for one another's function -- at certain "imprinted genes" in the developing mouse brain. Imprinted genes are a relatively rare type of gene that carries different information depending on whether it is inherited from the mother or the father. The results support the conclusion that ATRX (the chromatin protein that is defective in ATR-X syndrome) and its binding partners regulate expression of imprinted genes, and likely other genes required for normal brain development, by controlling chromatin structure.

"Our findings provide the first glimpse of the cooperation between ATRX and multiple other disease proteins in the regulation of common gene targets, perhaps explaining similarities between the associated human syndromes," says Dr. Bιrubι. "The failure to properly suppress genes that are essential during embryonic development, but potentially detrimental in the mature brain, might contribute to cognitive deficiencies characteristic of RTT, CdLS and ATR-X syndromes. Further studies are needed to gain a better understanding of the specific role of these chromatin proteins and the molecular pathogenesis of the associated human disorders."

The researchers include Kristin D. Kernohan, University of Western Ontario, Victoria Research Laboratories, London, Ontario, Canada; Yan Jiang, University of Western Ontario, Victoria Research Laboratories, London, Ontario, Canada; Deanna C. Tremblay, University of Western Ontario, Victoria Research Laboratories, London, Ontario, Canada; Anne C. Bonvissuto, University of Western Ontario, Victoria Research Laboratories, London, Ontario, Canada; James H. Eubanks, Toronto Western Research Institute, Toronto, Canada; Mellissa R.W. Mann, University of Western Ontario, Victoria Research Laboratories, London, Ontario, Canada; and Nathalie G. Berube΄, University of Western Ontario, Victoria Research Laboratories, London, Ontario, Canada.


Story Source:

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


Cite This Page:

Cell Press. "Common thread links multiple human cognitive disorders." ScienceDaily. ScienceDaily, 15 February 2010. <www.sciencedaily.com/releases/2010/02/100215122819.htm>.
Cell Press. (2010, February 15). Common thread links multiple human cognitive disorders. ScienceDaily. Retrieved March 4, 2015 from www.sciencedaily.com/releases/2010/02/100215122819.htm
Cell Press. "Common thread links multiple human cognitive disorders." ScienceDaily. www.sciencedaily.com/releases/2010/02/100215122819.htm (accessed March 4, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Wednesday, March 4, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Adults Only Get The Flu Twice A Decade, Researchers Say

Adults Only Get The Flu Twice A Decade, Researchers Say

Newsy (Mar. 4, 2015) — Researchers found adults only get the flu about once every five years. Scientists analyzed how a person&apos;s immunity builds up over time as well. Video provided by Newsy
Powered by NewsLook.com
Mount Everest Has a Poop Problem

Mount Everest Has a Poop Problem

Buzz60 (Mar. 4, 2015) — With no bathrooms to use, climbers of Mount Everest have been leaving human waste on the mountain for years, and it&apos;s becoming a health issue. Mike Janela (@mikejanela) has more. Video provided by Buzz60
Powered by NewsLook.com
The Best Tips to 'Skinny' Your Home

The Best Tips to 'Skinny' Your Home

Buzz60 (Mar. 4, 2015) — If you&apos;re looking to reach your health goals this season, there are a few simple tips to help you spring clean your space and improve your nutrition. Krystin Goodwin (@krystingoodwin) has the skinny on keeping a healthy home. Video provided by Buzz60
Powered by NewsLook.com
Analysis: Supreme Court Hears ACA Challenge

Analysis: Supreme Court Hears ACA Challenge

AP (Mar. 4, 2015) — Associated Press legal reporter Mark Sherman breaks down the details of the latest Affordable Care Act challenge to make it to the Supreme Court. (March 4) 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