HOME >> BIOLOGY >> NEWS
How Rett Syndrome mutation targets the brain

Researchers have pinpointed why mutations that cause Rett Syndrome (RTT)--among the leading causes of mental retardation in females--specifically target the brain rather than other body tissues. They said their findings yield important insight into the origin and course of the disease.

RTT has been especially puzzling because girls with the disorder develop normally through the first 6 to 18 months of life. But then they lose motor skills and speech, their heads cease normal growth, and they begin to show irregular breathing, obsessive hand-wringing, and autistic behaviors.

Researchers had traced the RTT's cause to mutations in the gene for methyl-CpG-binding protein 2 (MeCP2)--a protein found in tissues throughout the body that regulates many target genes by repressing their activity. The gene for MeCP2 is found on the X chromosome, which is why females, with two X chromosomes, are far more likely to suffer from RTT than are males.

In their new studies, reported in the October 19, 2006, issue of the journal Neuron, published by Cell Press, Michael Greenberg and colleagues tackled a central mystery of the disorder: why mutations in the MeCP2 gene specifically produce neural pathology. They also sought to understand why the pathology of RTT does not appear until well into infant development.

In experiments with rats and mice, the researchers identified a particular site, called S421, on the MeCP2 protein that is the trigger site for activating MeCP2 during its normal function. MeCP2 is activated by a process called phosphorylation, in response to neuronal activity, as when the brain receives sensory experience, they found. Without such activation, as occurs when MeCP2 is "crippled" by a mutation affecting S421, the protein does not function properly.

Particularly significant was the researchers' finding that MeCP2 is selectively phosphorylated at the S421 site only in the brain. This specificity explains why mutat
'"/>

Contact: Heidi Hardman
hhardman@cell.com
617-397-2879
Cell Press
18-Oct-2006


Page: 1 2

Related biology news :

1. Discoverer of Sly Syndrome finds way of delivering medicine to fight rare genetic disorder
2. Researchers discover gene responsible for Restless Legs Syndrome
3. Study uncovers mutation responsible for Noonan Syndrome
4. New findings may lead to treatment for anxiety in Rett Syndrome
5. Brain derived neurotrophic factor alleviates disease symptoms in a mouse model of Rett Syndrome
6. Increasing norepinephrine stabilizes breathing patterns in a mouse model of Rett Syndrome
7. Univ. of Chicago scientists find potential cause of breathing problems in Rett Syndrome children
8. New data suggest pramipexole relieves symptoms of Restless Legs Syndrome (RLS) and is well-tolerated
9. Pramipexole delivered sustained efficacy in clinical trial of patients with Restless Legs Syndrome
10. Researchers at Yale identify a genetic link to Tourettes Syndrome
11. Discovery will aid identification of misregulated genes in Rett Syndrome

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:4/5/2017)... 2017 KEY FINDINGS The global ... a CAGR of 25.76% during the forecast period of ... factor for the growth of the stem cell market. ... MARKET INSIGHTS The global stem cell market is ... geography. The stem cell market of the product is ...
(Date:3/30/2017)... 30, 2017 The research team of The ... (3D) fingerprint identification by adopting ground breaking 3D fingerprint minutiae recovery ... of speed and accuracy for use in identification, crime investigation, immigration ... ... A research team ...
(Date:3/27/2017)... March 27, 2017  Catholic Health Services (CHS) ... Systems Society (HIMSS) Analytics for achieving Stage 6 ... sm . In addition, CHS previously earned a ... using an electronic medical record (EMR). ... level of EMR usage in an outpatient setting.  ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... ... eye wash is a basic first aid supply for any work environment, but most personal ... rinse first if a dangerous substance enters both eyes? It’s one less decision, and likely ... dual eye piece. , “Whether its dirt and debris, or an acid or alkali, getting ...
(Date:10/11/2017)... LAGUNA HILLS, Calif. , Oct. 11, 2017 /PRNewswire/ ... London (ICR) and University of ... tool to risk-stratify patients with multiple myeloma (MM), in a ... . The University of Leeds is ... Myeloma UK, and ICR will perform the testing services to ...
(Date:10/10/2017)... ... 2017 , ... San Diego-based team building and cooking events company, Lajollacooks4u, has ... The bold new look is part of a transformation to increase awareness, appeal to ... period. , It will also expand its service offering from its signature gourmet cooking ...
(Date:10/10/2017)... Oct. 10, 2017 International research firm Parks Associates ... speak at the TMA 2017 Annual Meeting , October 11 in ... the residential home security market and how smart safety and security products ... Parks Associates: Smart ... "The residential security market ...
Breaking Biology Technology:
Cached News: