Featured Research

from universities, journals, and other organizations

Discovery Of A Debilitating Genetic Syndrome

Date:
December 8, 2008
Source:
Université de Montréal Hospital Centre
Summary:
Canadian researchers announce the discovery of MEDNIK Syndrome, a debilitating genetic syndrome. Scientists have demonstrated that this syndrome is caused by a newly found mutation in the AP1S1 gene.

Canadian researchers announce the discovery of MEDNIK Syndrome, a debilitating genetic syndrome. A research team led by Dr. Patrick Cossette, from the Université de Montréal Hospital Research Centre (CRCHUM) and Associate Professor, Université de Montréal (U de M), has demonstrated that this syndrome is caused by a newly found mutation in the AP1S1 gene.

Related Articles


MEDNIK syndrome was discovered in a group of families in Quebec from the Kamouraska region, sharing a common ancestor, suspected from clinical manifestations showing striking similarities to those of a similar syndrome. Caused by a mutation in the AP1S1 gene, this syndrome is characterized by mental retardation, enteropathy, deafness, and peripheral neuropathy, ichthyosis, and keratodermia (MEDNIK).

''Our observations strongly suggest that MEDNIK Syndrome is caused by impaired development of various neural networks, including the spinal chord (ataxia and neuropathy), the inner ear (sensorineural deafness) and possibly the brain (microcephaly and psychomotor retardation)," notes Dr. Cossette. ''Disruption of the AP1S1 gene in humans may be associated with more widespread perturbation in the development of various organs, including the gut and the skin. These results suggest interesting avenues for both basic and clinical research to improve our understanding of the mechanisms underlying MEDNIK and related genetic neurocutaneous syndromes."

By using zebrafish as an animal model, the team of researchers from CRCHUM, U de M, Ontario Institute for Cancer Research, McGill University, Université de Sherbrooke, and Centre hospitalier régional du Grand-Portage in Rivière-du-Loup observed that the loss of the AP1S1 gene resulted in these broad defects, including severe motor deficits due to impairment of spinal cord development. By inducing the expression of the human AP1S1 gene instead of the zebrafish gene, the research team found that the normal human type could rescue these developmental deficits but not the AP1S1 gene bearing the disease-related mutation. This research appears to be the first report of a mutation in human AP1S1.

About the role of the AP1S1 gene in MEDNIK

The AP1S1 gene encodes for a small subunit of an adaptor protein complex (AP-1) involved in the organisation and transport of many other proteins within the cell. Interference with these pathways could result in perturbation of cellular organisation and be detrimental for the development of specific cell subpopulations, as observed respectively in the skin and the spinal cord.

This study was funded by Canadian Genetic Disease Network, the Canadian Institutes of Health Research, the Fonds de la recherche en santé du Québec, Genome Canada and Genome Quebec.


Story Source:

The above story is based on materials provided by Université de Montréal Hospital Centre. Note: Materials may be edited for content and length.


Journal Reference:

  1. Cossette, P. et al. Causing a Novel Neurocutaneous Syndrome, Perturbs Development of the Skin and Spinal Cord. PLoS Genetics, 4(12): e1000296 DOI: 10.1371/journal.pgen.1000296

Cite This Page:

Université de Montréal Hospital Centre. "Discovery Of A Debilitating Genetic Syndrome." ScienceDaily. ScienceDaily, 8 December 2008. <www.sciencedaily.com/releases/2008/12/081205094620.htm>.
Université de Montréal Hospital Centre. (2008, December 8). Discovery Of A Debilitating Genetic Syndrome. ScienceDaily. Retrieved October 25, 2014 from www.sciencedaily.com/releases/2008/12/081205094620.htm
Université de Montréal Hospital Centre. "Discovery Of A Debilitating Genetic Syndrome." ScienceDaily. www.sciencedaily.com/releases/2008/12/081205094620.htm (accessed October 25, 2014).

Share This



More Health & Medicine News

Saturday, October 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Texas Nurse Nina Pham Cured of Ebola

Texas Nurse Nina Pham Cured of Ebola

AFP (Oct. 25, 2014) — An American nurse who contracted Ebola while caring for a Liberian patient in Texas has been declared free of the virus and will leave the hospital. Duration: 01:01 Video provided by AFP
Powered by NewsLook.com
IKEA Desk Converts From Standing to Sitting With One Button

IKEA Desk Converts From Standing to Sitting With One Button

Buzz60 (Oct. 24, 2014) — IKEA is out with a new convertible desk that can convert from a sitting desk to a standing one with just the push of a button. Jen Markham explains. Video provided by Buzz60
Powered by NewsLook.com
Ebola Protective Suits Being Made in China

Ebola Protective Suits Being Made in China

AFP (Oct. 24, 2014) — A factory in China is busy making Ebola protective suits for healthcare workers and others fighting the spread of the virus. Duration: 00:38 Video provided by AFP
Powered by NewsLook.com
WHO: Millions of Ebola Vaccine Doses by 2015

WHO: Millions of Ebola Vaccine Doses by 2015

AP (Oct. 24, 2014) — The World Health Organization said on Friday that millions of doses of two experimental Ebola vaccines could be ready for use in 2015 and five more experimental vaccines would start being tested in March. (Oct. 24) Video provided by AP
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:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

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