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:5/6/2017)... 5, 2017 RAM Group , ... new breakthrough in biometric authentication based on a ... properties to perform biometric authentication. These new sensors are ... created by Ram Group and its partners. This sensor ... supply chains and security. Ram Group is a ...
(Date:4/13/2017)... 13, 2017 UBM,s Advanced Design and Manufacturing ... feature emerging and evolving technology through its 3D Printing ... run alongside the expo portion of the event and ... demonstrations focused on trending topics within 3D printing and ... manufacturing event will take place June 13-15, 2017 at the ...
(Date:4/11/2017)... , April 11, 2017 NXT-ID, ... security technology company, announces the appointment of independent Directors Mr. ... to its Board of Directors, furthering the company,s corporate ... ... NXT-ID, we look forward to their guidance and benefiting from ...
Breaking Biology News(10 mins):
(Date:10/9/2017)... Jupiter, FL (PRWEB) , ... October 09, 2017 , ... ... episode, scheduled to broadcast first quarter 2018. American Farmer airs Tuesdays at 8:30aET on ... Agriculture industry is faced with the challenge of how to continue to feed a ...
(Date:10/9/2017)... ... October 09, 2017 , ... ... the medical journal, Epilepsia, Brain Sentinel’s SPEAC® System which uses the surface ... detecting generalized tonic-clonic seizures (GTCS) using surface electromyography (sEMG). The prospective multicenter ...
(Date:10/7/2017)...  The 2017 Nobel Prize in Chemistry recognizes ... Joachim Frank and Richard Henderson ... (cryo-EM) have helped to broaden the use ... The winners worked with systems manufactured by Thermo ... resolved, three-dimensional images of protein structures that lead ...
(Date:10/5/2017)... ... 05, 2017 , ... LabRoots , the leading provider of educational and ... giving back to cancer research with a month-long promotion supporting the advancement of breast ... shoppers can use promo code PinkRibbon to get 10 percent off their purchase of ...
Breaking Biology Technology:
Cached News: