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:


(Date:4/11/2017)... April 11, 2017 No two people ... at the New York University Tandon School of ... have found that partial similarities between prints are ... in mobile phones and other electronic devices can ... The vulnerability lies in the fact that fingerprint-based ...
(Date:4/5/2017)... NEW YORK , April 5, 2017 ... security, is announcing that the server component of the ... is known for providing the end-to-end security architecture that ... customers. HYPR has already secured over 15 ... system makers including manufacturers of connected home product suites ...
(Date:3/30/2017)... , March 30, 2017  On April 6-7, ... Hack the Genome hackathon at Microsoft,s headquarters ... two-day competition will focus on developing health and wellness ... Hack the Genome is the first ... tremendous. The world,s largest companies in the genomics, tech ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... LAGUNA HILLS, Calif. , Oct. 11, 2017 ... London (ICR) and University of ... prognostic tool to risk-stratify patients with multiple myeloma (MM), in ... nine . The University of Leeds ... by Myeloma UK, and ICR will perform the testing services ...
(Date:10/10/2017)... ... October 10, 2017 , ... ... conjugate (ADC) therapeutics, today confirmed licensing rights that give it exclusive global ... technology developed in collaboration with Children’s Hospital Los Angeles (CHLA). Additionally, ...
(Date:10/10/2017)... ... October 10, 2017 , ... USDM Life Sciences , ... life sciences and healthcare industries, announces a presentation by Subbu Viswanathan and Jennifer ... “Automating GxP Validation for Agile Cloud Platforms,” will present a revolutionary approach to ...
(Date:10/9/2017)... ... October 09, 2017 , ... ... of medical marijuana products targeting the needs of consumers who are incorporating medical ... takes place in Phoenix, Arizona. , As operators of two successful Valley dispensaries, ...
Breaking Biology Technology:
Cached News: