HOME >> BIOLOGY >> NEWS
Researchers develop mouse model of Rett syndrome

By studying gene mutations in patients with the complex set of behavioral and neurological symptoms that accompany Rett syndrome, Howard Hughes Medical Institute investigator Huda Zoghbi and her colleagues at Baylor College of Medicine have designed a mouse model that faithfully recapitulates the disease down to its distinctive hand-wringing behavior.

The development of the mouse, reported in the July 18, 2002 issue of the journal Neuron, provides a springboard into the study of Rett syndrome, the leading cause of mental retardation in girls.

First recognized as a syndrome in the 1980s, the disorder affects one in 10,000-15,000 girls. It is particularly devastating for families with affected children because infants are seemingly normal at birth and achieve the usual developmental milestones for the first few months of life. Then, as the infant reaches toddlerhood, a sudden and dramatic decline in physical and mental capabilities takes hold, accompanied by onset of seizures, irregular breathing, awkward gait, and hand-wringing.

"I know of no other neurological disease that gives this distinctive stereotypic behavior -- this hand-wringing these girls do basically all the time they are awake," said Zoghbi. "With this mouse model we can now ask, 'Why is that?'"

Zoghbi has been studying Rett syndrome since the mid-1980s, when she first encountered patients with the disorder as a neurology fellow and decided to search for the gene responsible for the disorder. She reasoned that the gene must be on the X chromosome, the female sex chromosome, and it must also be essential because there had been no males reported to have the syndrome. (Since males have only one X chromosome, mutations that knock out the gene's function could be lethal at an embryonic stage.) In females, there are two copies of the X chromosome, but in each cell only one of the two X chromosomes is
'"/>

Contact: Jim Keeley
keeleyj@hhmi.org
301-215-8858
Howard Hughes Medical Institute
18-Jul-2002


Page: 1 2 3

Related biology news :

1. Researchers determine genetic cause of Timothy syndrome
2. Researchers find color sensitive atomic switch in bacteria
3. Researchers identify protein promoting vascular tumor growth
4. Researchers devise potent new tools to curb ivory poaching
5. Researchers create nanotubes that change colors, form nanocarpet and kill bacteria
6. Researchers ID chlorophyll-regulating gene
7. Researchers develop fast track way to discover how cells are regulated
8. Researchers identify distinctive signature for metastatic prostate cancer
9. Researchers report new gene test for isolated cleft lip and palate
10. Researchers discover why mutant gene causes colon cancer
11. Researchers identify the genomes controlling elements

Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Researchers develop mouse model Rett syndrome

(Date:8/12/2015)... Florida , August 12, 2015 ... pace of mobile payment innovation and advanced biometrics technology ... replace the way consumers rely on using their credit ... with reinventing the future for payment services led by ... NXTD ), :  Google, Inc. (NASDAQ: GOOG ...
(Date:8/10/2015)... The latest 364 page report from ... the global border security market . Visiongain ... 2015. Now: Border security is hard to achieve ... business critical issue you need to know about - and ... analysis of how this will impact your company and the ...
(Date:8/5/2015)... 5, 2015 Transparency Market Research ... Market - Global Industry Analysis, Size, Share, Growth, Trends ... facial recognition is forecast to reach US$ 2,671.8 Mn ... for surveillance systems by civil and government agencies. This ... and terrorist activities across the globe that would elevate ...
Breaking Biology News(10 mins):Digital Wallet Devices & Mobile Payment Management Services Gain a Distinct Advantage in the Digital Payment Evolution as Demand Continues to Grow 2Digital Wallet Devices & Mobile Payment Management Services Gain a Distinct Advantage in the Digital Payment Evolution as Demand Continues to Grow 3Digital Wallet Devices & Mobile Payment Management Services Gain a Distinct Advantage in the Digital Payment Evolution as Demand Continues to Grow 4Digital Wallet Devices & Mobile Payment Management Services Gain a Distinct Advantage in the Digital Payment Evolution as Demand Continues to Grow 5Digital Wallet Devices & Mobile Payment Management Services Gain a Distinct Advantage in the Digital Payment Evolution as Demand Continues to Grow 6Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 2Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 3Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 4Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 5Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 6Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 7Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 8Border Security Market Report 2015-2025 - Growth in Biometrics, ICT, Manned and Unmanned Vehicles, and Perimeter Surveillance 9Facial Recognition Market Expected to Reach US$ 2.67 Bn by 2022, at a CAGR of 9.5% From 2015 - 2022: Transparency Market Research 2Facial Recognition Market Expected to Reach US$ 2.67 Bn by 2022, at a CAGR of 9.5% From 2015 - 2022: Transparency Market Research 3Facial Recognition Market Expected to Reach US$ 2.67 Bn by 2022, at a CAGR of 9.5% From 2015 - 2022: Transparency Market Research 4Facial Recognition Market Expected to Reach US$ 2.67 Bn by 2022, at a CAGR of 9.5% From 2015 - 2022: Transparency Market Research 5Facial Recognition Market Expected to Reach US$ 2.67 Bn by 2022, at a CAGR of 9.5% From 2015 - 2022: Transparency Market Research 6
(Date:9/1/2015)... ... September 01, 2015 , ... Industry leader ... Asia Pacific. In this newly-created position, Gibbs will lead iLab’s business operations in ... suite of tools. This entails not only introducing iLab to potential partners but ...
(Date:9/1/2015)... CA (PRWEB) , ... September 01, 2015 , ... ... today announced the release of a groundbreaking new version of its flagship DNA ... design methodology breaks down complex DNA sequences into numerous genetic parts, which in ...
(Date:8/31/2015)... , Aug. 31, 2015 /PRNewswire/ - BIOREM Inc. (TSXV: BRM) ... $5.7 million. The orders are for air emission abatement projects in ... note is a large order for a municipality in the ... be replacing a competitor,s system that failed to meet the ... engineered solutions," said Derek S. Webb , President and ...
(Date:8/31/2015)... , Aug. 31, 2015 Research and Markets ... "Argentina Biomedical Sensors Market - Growth, Trends & ... The Argentina Biomedical Sensors market is estimated at ... over the period 2014-2020 The near future ... genetic formulation of each individual. These sensors can be ...
Breaking Biology Technology:iLab Solutions Hires Gerard Gibbs, Director of Business Development, Asia Pacific 2iLab Solutions Hires Gerard Gibbs, Director of Business Development, Asia Pacific 3GenoCAD Releases Combinatorial Design Tool to Optimize Protein Expression and Streamline DNA Synthesis Orders 2Argentina Biomedical Sensors Market Report 2015 - Growth, Trends & Forecasts 2014-2020 2
Cached News: