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:
(Date:7/30/2014)... York University is paving the way for a ... and military troops exposed to poisonous chemicalsparticularly those ... article in the current issue of the journal ... organophosphates, which are compounds commonly used in pesticides ... by NYU School of Engineering Associate Professor of ...
(Date:7/30/2014)... The black truffle uses reversible epigenetic processes to regulate ... The ,methylome, - a picture of the genome regulation ... open access journal Genome Biology and illustrates ... elements and ,jumping genes,. The authors say this may ... are controlled. , Black truffles (Tuber melanosporum), also known ...
(Date:7/30/2014)... Lewis Carroll,s Through the Looking Glass, collaborators from ... Singapore improved a 35-year-old ecology model to better ... of years. , The new model, called a ... Queen Effect," an evolutionary hypothesis introduced by Lee ... organisms must constantly increase their fitness (or ability ...
Breaking Biology News(10 mins):Engineering a protein to prevent brain damage from toxic agents 2How black truffles deal with the jumpers in their genome 2Classic Lewis Carroll character inspires new ecological model 2Classic Lewis Carroll character inspires new ecological model 3
(Date:7/31/2014)... (PRWEB) July 31, 2014 ... and collaboration company, is proud to announce the ... LMS complements Adobe Connect’s elearning tools to quickly ... delivers content with training tools for desktop and ... with LMS is the perfect online training solution, ...
(Date:7/31/2014)... July 31, 2014 The Kidney Cancer Association ... its monthly news magazine, Kidney Cancer News. , Bill ... on a website maintained by an international news organization. When ... increase in viewers.” , This month’s program highlights news of ... analyzed in a recent study. Kidney Cancer News also ...
(Date:7/31/2014)... (PRWEB) July 31, 2014 Boston’s Adult ... itself flush with innovative adult stem cell biotechnologies. ... and has three additional patent applications currently under ... The patented inventions address two of the most vexing ... medicine. Adult stem cells are difficult to identify; ...
(Date:7/31/2014)... Sales Horizons, a leader in sales ... training course – Mastering the Complex Sale ... Drawn from proven sales training programs used by thousands ... Sale online sales training course is available to every ... contact with customers, like technical support, engineers, clinical support, ...
Breaking Biology Technology:SoundConnect Enhances Portfolio with Adobe Connect Learning Management System (LMS) 2The Adult Stem Cell Technology Center, LLC Launches A Marketing Campaign To License Adult Stem Cell Biotechnologies 2The Adult Stem Cell Technology Center, LLC Launches A Marketing Campaign To License Adult Stem Cell Biotechnologies 3Sales Horizons Offers Mastering the Complex Sale - a Comprehensive, Online Sales Skills Training Course 2Sales Horizons Offers Mastering the Complex Sale - a Comprehensive, Online Sales Skills Training Course 3
Cached News: