Featured Research

from universities, journals, and other organizations

Researchers Identify A New Form Of Disease Gene Associated With Rett Syndrome

Date:
March 23, 2004
Source:
University Of Toronto
Summary:
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.

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 enter a period of regression, losing speech and other skills they had acquired. Most of the children develop seizures, repetitive hand movements, developmental delay, and motor-control problems, and they often have autistic tendencies. Rett syndrome is believed to affect 1 in 10,000 females.

"Since the Rett syndrome genetic tests are used not only to confirm a diagnosis of Rett syndrome, but also for 'negative inclusion' in other developmental disabilities such as cerebral palsy, forms of mental retardation and autism, we expect this new discovery to have great clinical utility," added Dr. Minassian.

Kathy Hunter, president and founder of the International Rett Syndrome Association (IRSA), applauded the new paper: "This is truly an exciting time for Rett syndrome research and is a major leap forward in our understanding of how MECP2 works in the nervous system. This critical discovery may be put into immediate practice. This finding will gladden the hearts of the thousands of families that must meet the challenges of Rett syndrome everyday. It brings us all hope that we are closer to finding answers that can ease our struggles."

###

This research was enabled through the assistance of clinical collaborators Dr. Carolyn Schanen at Nemours Biomedical Research, Alfred I. duPont Hospital for Children in Delaware, Dr. Patrick MacLeod at the University of British Columbia, and Dr. Michael Friez at Greenwood Genetic Center in South Carolina. This research was supported by the Canadian Institutes of Health Research – Neuromuscular Research Partnership, The Hospital for Sick Children Foundation, and a U of T Dean's Award to Dr. Vincent.

The Hospital for Sick Children, affiliated with the University of Toronto, is Canada's most research-intensive hospital and the largest centre dedicated to improving children's health in the country. Its mission is to provide the best in family-centred, compassionate care, to lead in scientific and clinical advancement, and to prepare the next generation of leaders in child health. For more information, please visit http://www.sickkids.ca.

The Centre for Addiction and Mental Health is the largest addiction and mental health organization in Canada. CAMH is a Pan American Health Organization and World Health Organization Collaborating Centre and a teaching hospital fully affiliated with the University of Toronto. For more information, visit http://www.camh.net.

Founded in 1827, the University of Toronto is Canada's leading teaching and research university with more than 60,000 students and 300,000 alumni worldwide. The university comprises 31 divisions, colleges and faculties on three campuses. This includes 14 professional faculties, numerous research centres and Canada's largest university library system – the fifth largest research library in North America. For the tenth consecutive year, U of T has taken the top spot among medical/doctoral universities in the annual Maclean's magazine university ranking.


Story Source:

The above story is based on materials provided by University Of Toronto. Note: Materials may be edited for content and length.


Cite This Page:

University Of Toronto. "Researchers Identify A New Form Of Disease Gene Associated With Rett Syndrome." ScienceDaily. ScienceDaily, 23 March 2004. <www.sciencedaily.com/releases/2004/03/040323071138.htm>.
University Of Toronto. (2004, March 23). Researchers Identify A New Form Of Disease Gene Associated With Rett Syndrome. ScienceDaily. Retrieved July 22, 2014 from www.sciencedaily.com/releases/2004/03/040323071138.htm
University Of Toronto. "Researchers Identify A New Form Of Disease Gene Associated With Rett Syndrome." ScienceDaily. www.sciencedaily.com/releases/2004/03/040323071138.htm (accessed July 22, 2014).

Share This




More Health & Medicine News

Tuesday, July 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Gilead's $1000-a-Pill Drug Could Cure Hep C in HIV-Positive People

Gilead's $1000-a-Pill Drug Could Cure Hep C in HIV-Positive People

TheStreet (July 21, 2014) New research shows Gilead Science's drug Sovaldi helps in curing hepatitis C in those who suffer from HIV. In a medical study, the combination of Gilead's Hep C drug with anti-viral drug Ribavirin cured 76% of HIV-positive patients suffering from the most common hepatitis C strain. Hepatitis C and related complications have been a top cause of death in HIV-positive patients. Typical medication used to treat the disease, including interferon proteins, tended to react badly with HIV drugs. However, Sovaldi's %1,000-a-pill price tag could limit the number of patients able to access the treatment. TheStreet's Keris Lahiff reports from New York. Video provided by TheStreet
Powered by NewsLook.com
$23.6 Billion Awarded To Widow In Smoking Lawsuit

$23.6 Billion Awarded To Widow In Smoking Lawsuit

Newsy (July 20, 2014) Cynthia Robinson claims R.J. Reynolds Tobacco Company hid the health and addiction risks of its products, leading to the death of her husband in 1996. Video provided by Newsy
Powered by NewsLook.com
Tooth Plaque Provides Insight Into Diets Of Ancient People

Tooth Plaque Provides Insight Into Diets Of Ancient People

Newsy (July 19, 2014) Research on plaque from ancient teeth shows that our prehistoric ancestor's had a detailed understanding of plants long before developing agriculture. Video provided by Newsy
Powered by NewsLook.com
Contaminated Water Kills 3 Babies in South African Town

Contaminated Water Kills 3 Babies in South African Town

AFP (July 18, 2014) Contaminated water in South Africa's northwestern town of Bloemhof kills three babies and hospitalises over 500 people. The incident highlights growing fears over water safety in South Africa. Duration: 02:22 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins