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 November 22, 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 November 22, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, November 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

WFP: Ebola Risks Heightened Among Women Throughout Africa

WFP: Ebola Risks Heightened Among Women Throughout Africa

AFP (Nov. 21, 2014) — Having children has always been a frightening prospect in Sierra Leone, the world's most dangerous place to give birth, but Ebola has presented an alarming new threat for expectant mothers. Duration: 00:37 Video provided by AFP
Powered by NewsLook.com
Could Your Genes Be The Reason You're Single?

Could Your Genes Be The Reason You're Single?

Newsy (Nov. 21, 2014) — Researchers in Beijing discovered a gene called 5-HTA1, and carriers are reportedly 20 percent more likely to be single. Video provided by Newsy
Powered by NewsLook.com
Milestone Birthdays Can Bring Existential Crisis, Study Says

Milestone Birthdays Can Bring Existential Crisis, Study Says

Newsy (Nov. 21, 2014) — Researchers find that as people approach new decades in their lives they make bigger life decisions. Video provided by Newsy
Powered by NewsLook.com
Ebola: Life Without School in Guinea

Ebola: Life Without School in Guinea

AFP (Nov. 21, 2014) — Following the closure of schools and universities in Guinea because of the Ebola virus, students look for temporary work or gather in makeshift classrooms to catch up on their syllabus. Duration: 02:14 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:

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