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:12/15/2016)... , Dec. 15, 2016 Advancements ... experience, health wellness and wellbeing (HWW), and ... in three new passenger vehicles begin to ... gesture recognition, heart beat monitoring, brain wave ... facial monitoring, and pulse detection. These will ...
(Date:12/12/2016)... 2016  Researchers at Trinity College, Dublin, are ... combining the material with Silly Putty. The mixture (known ... able to sense pulse, blood pressure, respiration, and ... The research team,s findings were published ... http://science.sciencemag.org/content/354/6317/1257 ...
(Date:12/7/2016)... India , December 7, 2016 According to a ... Machine Learning), Software Tool (Facial Expression, Voice Recognition), Service, Application Area, End User, ... is estimated to grow from USD 6.72 Billion in 2016 to USD 36.07 ... Continue Reading ... ...
Breaking Biology News(10 mins):
(Date:1/19/2017)... ... January 19, 2017 , ... Genedata, ... (R&D), today announced the launch of Data Science Services , offering ... evolving field of precision medicine. , Data Science Services allows pharmaceutical ...
(Date:1/19/2017)... and GAITHERSBURG, Md. ... MKT: PIP) and Altimmune, Inc., a privately-held immunotherapeutics ... of a definitive agreement for the merger of ... current investors include Novartis Venture Fund, HealthCap, Truffle ... be a fully-integrated and diversified immunotherapeutics company with ...
(Date:1/19/2017)... AquaBounty Technologies, Inc. (AIM: ABTU; NASDAQ: AQB), ... and a majority-owned subsidiary of Intrexon Corporation (NYSE: ... listing of its common shares on the NASDAQ Stock ... "AquaBounty,s listing on NASDAQ represents an important milestone ... the U.S. markets as we advance plans for commercial ...
(Date:1/19/2017)... Ca (PRWEB) , ... January 18, 2017 , ... ... events for tech innovators, engineers, and scientists from around the world, was today ... News. The awards program is based entirely on merit and decided upon by ...
Breaking Biology Technology:
Cached News: