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
International Rett Syndrome Association

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:

(Date:11/2/2015)... , Nov. 2, 2015  SRI International has ... to provide preclinical development services to the National Cancer ... SRI will provide scientific expertise, modern testing and support ... of preclinical pharmacology and toxicology studies to evaluate potential ... --> The PREVENT Cancer Drug Development Program is ...
(Date:10/29/2015)... Mich. , Oct. 29, 2015  Rubicon ... Genomics for U.S. distribution of its DNA library ... kit and Rubicon,s new ThruPLEX Plasma-seq kit. ThruPLEX ... enable the preparation of NGS libraries for liquid ... for diagnostic and prognostic applications in cancer and ...
(Date:10/27/2015)... NEW YORK , Oct. 27, 2015 ... the major issues of concern for various industry verticals ... This is due to the growing demand for secure ... practices in various ,sectors, such as hacking of bank ... concerns for electronic equipment such as PC,s, laptops, and ...
Breaking Biology News(10 mins):
(Date:11/25/2015)... PUNE, India , November 26, 2015 /PRNewswire/ ... The Global Biobanking Market 2016 - 2020 ... biobanks by maintaining integrity and quality in long-term ... and enabling long-term cost-effectiveness. Automation minimizes manual errors ... improves the technical efficiency. Further, it plays a ...
(Date:11/25/2015)... 25, 2015 2 nouvelles études permettent ... les différences entre les souches bactériennes retrouvées dans la ... des êtres humains . Ces recherches  ouvrent une nouvelle ... prise en charge efficace de l,un des problèmes ... chats .    --> 2 nouvelles études ...
(Date:11/25/2015)... HOLLISTON, Mass. , Nov. 25, 2015 /PRNewswire/ ... ), a biotechnology company developing bioengineered organ implants for ... will present at the LD Micro "Main Event" ... p.m. PT. The presentation will be webcast live and ... will also be available at the conference for one-on-one ...
(Date:11/25/2015)... , Nov. 25, 2015 /PRNewswire/ - Aeterna Zentaris Inc. ... its business and prospects remain fundamentally strong and ... (zoptarelin doxorubicin) recently received DSMB recommendation to continue ... following review of the final interim efficacy and ... Primary Endpoint in men with heavily pretreated castration- ...
Breaking Biology Technology:
Cached News: