Navigation Links
A common thread links multiple human cognitive disorders

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
Cell Press

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:
(Date:11/9/2015)... DUBLIN , Nov. 09, 2015 /PRNewswire/ ... announced the addition of the "Global ... to their offering. --> ... "Global Law Enforcement Biometrics Market 2015-2019" ... Research and Markets ( ) ...
(Date:11/4/2015)... York , November 4, 2015 ... a new market report published by Transparency Market Research "Home ... Growth, Trends and Forecast 2015 - 2022", the global home ... US$ 30.3 bn by 2022. The market is estimated ... forecast period from 2015 to 2022. Rising security needs ...
(Date:10/29/2015)... --  MedNet Solutions , an innovative SaaS-based eClinical technology ... is pleased to announce that it has been selected ... of only three finalists for a 2015 Tekne ... category. The Tekne Awards honor Minnesota ... and leadership. iMedNet™ eClinical  technology ...
Breaking Biology News(10 mins):
(Date:11/25/2015)... ... November 25, 2015 , ... A long-standing ... Aerospace Professionals (OPBAP) has been formalized with the signing of a Memorandum of ... with OPBAP leaders Capt. Karl Minter and Capt. Albert Glenn Tuesday, November 24, ...
(Date:11/24/2015)... ... , ... The United States Golf Association (USGA) today announced Dr. Bruce Clarke, ... annually since 1961, the USGA Green Section Award recognizes an individual’s distinguished service to ... Clarke, of Iselin, N.J., is an extension specialist of turfgrass pathology in the department ...
(Date:11/24/2015)... ... November 24, 2015 , ... International Society for Pharmaceutical ... the premier annual events for pharmaceutical manufacturing: 2015 Annual Meeting. The conference took ... hosted the largest number of attendees in more than a decade. , ...
(Date:11/24/2015)... ... ... The Academy of Model Aeronautics (AMA), led by its Executive Council, has ... Prix, to represent the First–Person View (FPV) racing community. , FPV racing has exploded ... of racing and several new model aviation pilots have joined the community because of ...
Breaking Biology Technology: