HOME >> BIOLOGY >> NEWS
Researchers discover an alternate form for the disease gene associated with Rett syndrome

For a related press release from the University of Toronto, click here.

Clinton, MD (March 22, 2004) - Researchers at Toronto's Hospital for Sick Children and their collaborators have identified a new form of the protein MECP2 which regulates the complex expression of Rett syndrome and other neurological disorders including autism, childhood schizophrenia and some forms of mental retardation. This discovery is being incorporated into a new molecular test that will aid not only the diagnosis of Rett syndrome, but also for other developmental disabilities. This research is reported in the April issue of the journal Nature Genetics (available online March 21, 2004).

"The previously identified gene MECP2 was only found in approximately 80% of Rett syndrome patients," said Dr. Berge Minassian, the study's principal investigator, a neurologist and scientist at Toronto's Hospital for Sick Children and an Assistant Professor in the Department of Paediatrics at the University of Toronto. "Our discovery suggests that a defective alternate form of the MECP2 gene causes Rett syndrome."

While there are 3,000 known cases of Rett Syndrome in the United States which predominantly strikes only girls, the disorder is genetically linked to more widespread neurological disorders such as autism and schizophrenia. Rett symptoms begin to manifest between the first six to eighteen months of life and eventually incapacitates the afflicted children so that they cannot survive without constant care. The disorder causes seizures, respiratory and gastrointestinal abnormalities, and a variety of muscular and motor impairments.

"The tragedy of this disorder is that it strikes girls who are too young to comprehend what is happening, and leaves them trapped inside their own bodies," said actress Julia Roberts, who became close to a little girl stricken with Rett and has t
'"/>

Contact: Susan Bro
312-560-6311
International Rett Syndrome Association
22-Mar-2004


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:6/3/2016)... 3, 2016 Das ... Nepal hat ein 44 ... geprägter Kennzeichen, einschließlich Personalisierung, Registrierung und IT-Infrastruktur, ... Produktion und Implementierung von Identitätsmanagementlösungen. Zahlreiche renommierte ... Januar teilgenommen, aber Decatur wurde als konformste ...
(Date:6/2/2016)... -- Perimeter Surveillance & Detection Systems, Biometrics ... Support & Other Service  The latest report ... analysis of the global Border Security market . ... $17.98 billion in 2016. Now: In November ... software and hardware technologies for advanced video surveillance. ...
(Date:5/20/2016)... , May 20, 2016  VoiceIt is ... partnership with VoicePass. By working together, ... experience.  Because VoiceIt and VoicePass take slightly different ... engines increases both security and usability. ... excitement about this new partnership. "This ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... ... June 23, 2016 , ... UAS ... the launch of their brand, UP4™ Probiotics, into Target stores nationwide. The company, ... proud to add Target to its list of well-respected retailers. This list includes ...
(Date:6/23/2016)... -- Houston Methodist Willowbrook Hospital has signed a ... serve as their official health care provider. As ... provide sponsorship support, athletic training services, and most ... athletes and families. "We are excited ... to bring Houston Methodist quality services and programs ...
(Date:6/23/2016)... 2016   EpiBiome , a precision microbiome engineering ... debt financing from Silicon Valley Bank (SVB). The financing ... advance its drug development efforts, as well as purchase ... "SVB has been an incredible strategic partner to us ... bank would provide," said Dr. Aeron Tynes Hammack ...
(Date:6/23/2016)... , June 23, 2016 Apellis ... Phase 1 clinical trials of its complement C3 ... single and multiple ascending dose studies designed to ... (PD) of subcutaneous injection in healthy adult volunteers. ... (SC) either as a single dose (ranging from ...
Breaking Biology Technology:
Cached News: