Discovery of a debilitating genetic syndrome

Dec 05, 2008

Canadian researchers announce the discovery of MEDNIK Syndrome, a debilitating genetic syndrome. In a study published today in the online version of PLoS Genetics, and in the December edition, 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.

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.

Source: Université de Montréal Hospital Centre

Explore further: Genes may help explain why some people are naturally more interested in music than others

add to favorites email to friend print save as pdf

Related Stories

Astronomers pinpoint 'Venus Zone' around stars

4 hours ago

San Francisco State University astronomer Stephen Kane and a team of researchers presented today the definition of a "Venus Zone," the area around a star in which a planet is likely to exhibit the unlivable ...

History books becoming next fight in Texas schools

4 hours ago

The next ideological fight over new textbooks for Texas classrooms intensified Wednesday with critics lambasting history lessons that they say exaggerate the influence of Moses in American democracy and negatively portray ...

Amazon deforestation up 29 pc in 2013

5 hours ago

Deforestation in the Amazon rose 29 percent between August 2012 and July of last year to 5,891 square kilometers (2,275 square miles), Brazilian officials said Wednesday, posting an amended figure.

Recommended for you

Gene variant that dramatically reduces 'bad' lipids

12 hours ago

In the first study to emerge from the UK10K Project's cohort of samples from the general public, scientists have identified a rare genetic variant that dramatically reduces levels of certain types of lipids in the blood. ...

New diagnostic method identifies genetic diseases

14 hours ago

People with genetic diseases often have to embark on an odyssey from one doctor to the next. Fewer than half of all patients who are suspected of having a genetic disease actually receive a satisfactory diagnosis. Scientists ...

User comments : 0