Navigation Links
A common thread links multiple human cognitive disorders
Date:2/15/2010

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. Now, research, published by Cell Press 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 Brub 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. Brub. "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."


'/>"/>

Contact: Cathleen Genova
cgenova@cell.com
617-397-2802
Cell Press
Source:Eurekalert

Related biology news :

1. Cell of origin identified for common type of breast cancer
2. The how and why of freezing the common fruit fly
3. Killer catfish? Venomous species surprisingly common, study finds
4. Researchers establish common seasonal pattern among bacterial communities in Arctic rivers
5. Factors from common human bacteria may trigger multiple sclerosis
6. Nanoparticles used in common household items caused genetic damage in mice
7. Testicular tumors may explain why some diseases are more common in children of older fathers
8. Boys with urogenital birth defects are 33 percent more common in villages sprayed with DDT
9. Scientists identify common HPV genotypes in northern India, encourage vaccination
10. Common herbicides and fibrates block nutrient-sensing receptor found in gut and pancreas
11. Oxidized form of a common vitamin may bring relief for ulcerative colitis
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/13/2017)... UBM,s Advanced Design and Manufacturing event in ... and evolving technology through its 3D Printing and Smart ... the expo portion of the event and feature a ... on trending topics within 3D printing and smart manufacturing. ... will take place June 13-15, 2017 at the Jacob K. ...
(Date:4/11/2017)... 11, 2017 No two people are ... the New York University Tandon School of Engineering ... found that partial similarities between prints are common ... mobile phones and other electronic devices can be ... vulnerability lies in the fact that fingerprint-based authentication ...
(Date:4/5/2017)... , April 5, 2017 Today HYPR ... that the server component of the HYPR platform is ... providing the end-to-end security architecture that empowers biometric authentication ... HYPR has already secured over 15 million users across ... manufacturers of connected home product suites and physical access ...
Breaking Biology News(10 mins):
(Date:9/21/2017)... ... September 21, 2017 , ... Today, ... professionals, has announced the addition of 5 new courses to its prospectus. These ... with Regulation 21 CFR Part 11 on Electronic Records and Electronic Signatures (Part ...
(Date:9/21/2017)... ... September 21, 2017 , ... Lajollacooks4u welcomed the San Diego chapter ... a worldwide society of professional women with high achievement in the fields of food, ... , Twelve members began with an olive oil tasting to whet their ...
(Date:9/20/2017)... ... September 20, 2017 , ... The award-winning producers behind ... to feature new innovations aimed at helping farmers solve the problem of nitrogen ... airs Tuesdays at 8:30aET on RFD-TV. Check your local listings for more info. ...
(Date:9/20/2017)... ... September 20, 2017 , ... Diversity focused business accelerator, The Refinery ... pitch competition to uncover the top technology-driven, women-led startups in Boston, MA, New Haven/Hamden, ... each city’s entrepreneurial events going on that week – in Boston, it will be ...
Breaking Biology Technology: