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:3/23/2016)... Massachusetts , March 23, 2016 /PRNewswire/ ... im Interesse erhöhter Sicherheit Gesichts- und Stimmerkennung ... Xura, Inc. (NASDAQ: MESG ), ... bekannt, dass das Unternehmen mit SpeechPro zusammenarbeitet, ... aus der Finanzdienstleistungsbranche, wird die Möglichkeit angeboten, ...
(Date:3/21/2016)... 22, 2016 Unique technology ... for superior security   Xura, ... of secure digital communications services, today announced it is ... offer enterprise customers, particularly those in the Financial Services ... voice authentication within a mobile app, alongside, and in ...
(Date:3/15/2016)... 15, 2016 --> ... Transparency Market Research "Digital Door Lock Systems Market - Global ... 2023," the global digital door lock systems market in terms ... and is forecast to grow at a CAGR of 31.8% ... and medium enterprises (MSMEs) across the world and high industrial ...
Breaking Biology News(10 mins):
(Date:5/25/2016)... ... May 25, 2016 , ... Thailand’s ... at BIO 2016 in San Francisco. Located at booth number 7301, representatives from ... answer questions and discuss the Thai biotechnology and life sciences sector. , ...
(Date:5/25/2016)... ... 2016 , ... Scientists at the University of Athens say they have evidence ... hampering the research that could lead to one good one. Surviving Mesothelioma has just ... , The team evaluated 98 mesothelioma patients who got a second ...
(Date:5/24/2016)... ... 2016 , ... Cell therapies for a range of serious ... at Worcester Polytechnic Institute (WPI) that yielded a newly patented method of converting ... novel method, developed by WPI faculty members Raymond Page, PhD, professor of practice ...
(Date:5/23/2016)... ... 23, 2016 , ... The need for blood donations in South Texas and across the nation ... Blood & Tissue Center, blood donations are on the decline. In fact, donations across the ... 21 percent in South Texas in the last four years alone. , There is no ...
Breaking Biology Technology:
Cached News: