HOME >> BIOLOGY >> NEWS
Researchers identify a new form of disease gene associated with Rett syndrome

TORONTO (March 22, 2004) -- Scientists at The Hospital for Sick Children (Sick Kids), the Centre for Addiction and Mental Health (CAMH) and the University of Toronto (U of T) have identified an alternate form of the disease gene and protein for the neurodevelopmental condition Rett syndrome. This discovery is being incorporated into a new molecular test that will aid not only in the diagnosis of Rett syndrome, but also for other developmental disabilities. This research is reported in the April issue of the scientific journal Nature Genetics (available online March 21, 2004).

"The previously identified gene MECP2 was only found in approximately 80 per cent of patients with Rett syndrome," said Dr. Berge Minassian, the study's principal investigator, a Sick Kids neurologist and scientist, and an assistant professor in the Department of Paediatrics at U of T. "Our discovery suggests that a defective alternate form of the MECP2 gene causes Rett syndrome."

The protein produced by the new alternate gene is different than the protein that was first associated with Rett syndrome in 1999. In the current work, this novel molecule was found to be disrupted in some Rett syndrome patients while the original form of the protein remained intact. The new protein is also the predominant form in the brain, strongly indicating that it is the disease-relevant protein.

"Our group's interest in Rett syndrome is relatively recent," said Dr. John Vincent, co-principal investigator of the study, head of the Molecular Neuropsychiatry & Development laboratory at CAMH, and assistant professor in the Department of Psychiatry at U of T. "Our fresh look at this problem was less affected by established dogma, and allowed us this new insight."

Rett syndrome is a genetic neurological disorder that occurs almost exclusively in girls, as the gene is found on the X chromosome. Babies with Rett syndrome appear to develop normally until 6 to 18 months of age. They then e
'"/>

Contact: Laura Greer, The Hospital for Sick Children
laura.greer@sickkids.ca
416-813-5046
University of Toronto
22-Mar-2004


Page: 1 2

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:5/7/2019)... ... 07, 2019 , ... Landsec and Spartan Bioscience today announced ... , In May, Landsec will undertake trials using Spartan’s innovative Legionella test. Spartan’s ... take corrective action within hours instead of weeks. This test, if approved, ...
(Date:5/2/2019)... ... 2019 , ... Philadelphia intellectual property law firm Panitch ... Ph.D., a registered patent agent, has joined the firm as a new member ... technical support and scientific expertise in the pharmaceutical and biotechnical arts and assists ...
(Date:5/2/2019)... ... May 01, 2019 , ... Gateway Genomics ... future children, announces a new publication titled, “ Self-Collection of Maternal Blood for ... Child Health. Previous studies had only shown early gender determination using venous blood. ...
Breaking Biology News(10 mins):
(Date:5/14/2019)... ... May 13, 2019 , ... Leak ... instruments for the Pharmaceutical, Biotechnology, Medical Device and Food Packaging Industries’ is excited ... website aims to improve LDA’s ability to communicate directly with the marketplace; serving ...
(Date:5/4/2019)... ... 03, 2019 , ... Diopsys Inc, the world leader in ... vision test, a new full field electroretinography (ffERG) protocol designed to detect ... Americans will have glaucoma, with black Americans having the highest prevalence rate. This ...
(Date:5/2/2019)... ... 02, 2019 , ... Boston Robotic Hair Restoration announces the ... the days of painful hair transplant procedures. Boston Robotic Hair Restoration offers the ... robotic intelligent solution to offer a minimally invasive procedure. With the ARTAS® iX ...
(Date:4/16/2019)... SAN ANTONIO (PRWEB) , ... April 16, 2019 ... ... biometrics-based human identification systems, applications, and technology, today announced that Bank South Pacific ... through a competitive RFP process. The bank awarded Fulcrum a contract to deliver ...
Breaking Biology Technology:
Cached News: