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:1/20/2019)... ... ... January has been a record-breaking month so far for Lajollacooks4u, San Diego’s premiere ... several of its signature cooking classes and team-building events, but it is also gearing ... , Since 2008, Lajollacooks4u’s team-building events have been a favorite for companies of all ...
(Date:1/20/2019)... , ... January 18, 2019 , ... Boston-based Laboratory as ... in an effort to better express its continued expansion and service offerings for ... for a new kind of lab: one that is more agile and adaptable than ...
(Date:1/14/2019)... ... January 14, 2019 , ... Join the ... GMT) to hear about key topics in data quality, including:, ...     Patient engagement ,     Smartphone and wearable based performance measures , ...
Breaking Biology News(10 mins):
(Date:1/20/2019)... ... January 17, 2019 , ... Consumers are directing healthcare in ... physicians. That's changing as many services now exist for patients to order tests ... totaled $208 million in 2018, according to Kalorama Information’s new report, The ...
(Date:1/20/2019)... ... January 17, 2019 , ... TrakCel, the leading ... The Quick Life Science Group (Quick Healthcare and QuickSTAT) today announce a partnership ... global cell and gene therapy industry to track products and manage the logistical ...
(Date:1/11/2019)... ... January 11, 2019 , ... ... for the automated collection of donor blood. This advanced and intuitive medical ... The unit incorporates the functionality needed for the busiest donor stations with new-to-the ...
(Date:1/10/2019)... ... January 08, 2019 , ... ... announced today that SAGICO will be represented at the 37th Annual J.P. ... Healthcare Conference is the largest and most informative healthcare investment symposium in ...
Breaking Biology Technology:
Cached News: