News Release 

INRS researcher receives $670,000 grant to continue research on Batten's disease

Batten's disease: research to understand and cure rare genetic diseases

Institut national de la recherche scientifique - INRS

Grant Announcement

Québec City and Montréal, September 18, 2020 - Institut de la recherche scientifique (INRS) announces that Stéphane Lefrançois, a professor at its Centre Armand-Frappier Santé Biotechnologie (AFSB), has received a grant of more than $670,000 from the Canadian Institutes of Health Research (CIHR) for his work on Batten's disease. He will be using the funds to continue his research into this rare genetic and degenerative disease, which mainly affects children.

Professor Lefrançois and his research team are primarily interested in the most common form of the disease, called Batten CLN3, which is caused by mutations in its namesake protein, for which there is no treatment to date. "This disease is often asymptomatic before the age of five to seven. We are conducting research to stop its progression. Finding a treatment is of utmost importance since life expectancy with the disease is about 30 years," says the researcher. "A grant such as this one from CIHR is a great opportunity to make progress."

INRS's AFSB Centre draws on a wide range of expertise to detect, prevent, and treat various diseases. "Research into neurodegenerative diseases plays a very big part at INRS. The skills of faculty members like Stéphane Lefrançois are driving advances in our understanding of diseases that affect a great many people around the world," said Pascale Champagne, INRS scientific director. "Financial partners such as CIHR provide key support for the advancement of science in Canada."

The study of cell biology

With his team in Laval, the researcher is studying the cell biology of the CLN3 protein in order to better understand its function and find therapeutic targets. When functioning normally, the CLN3 protein ensures ongoing delivery of proteins to the endosome, an intracellular compartment that acts as a sorting centre for the various proteins in the cell.

"In this cellular process, the receptor should be thought of as a truck that transports proteins from the Golgi apparatus--the production plant--to the sorting centre, the endosome. The truck--CLN3--is constantly going back and forth, picking up and delivering more proteins from the Golgi," explains Dr. Klein. "When there are mutations, the truck does not return to the Golgi after unloading the proteins. Instead, it heads to the lysosomes, where it is destroyed as cellular waste."

Since the receptor is degraded, the proteins required for the lysosomes to function are not transported. These organelles are no longer able to destroy cellular waste, which then accumulates and causes cell degeneration. "The child's development is thought to be normal for the first few years because the cell compensates by creating other trucks. But eventually it's not able to generate enough, so the system is no longer functional and starts to degrade," adds Professor Lefrançois.

Professor Lefrançois is collaborating with a team of European researchers to restore the normal function of the CLN3 protein using a promising molecule. It is hoped this molecule will prevent the receptor from degrading and enable it to continue transporting proteins.

Worldwide, it is estimated that the various forms of Batten's disease affect one person in 100,000.

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About INRS

INRS is a university dedicated exclusively to graduate level research and training. Since its creation in 1969, INRS has played an active role in Quebec's economic, social, and cultural development and is ranked first for research intensity in Quebec and second in Canada. INRS is made up of four interdisciplinary research and training centres in Quebec City, Montreal, Laval, and Varennes, with expertise in strategic sectors: Eau Terre Environnement, Énergie Matériaux Télécommunications, Urbanisation Culture Société, and Armand-Frappier Santé Biotechnologie. The INRS community includes more than 1,400 students, postdoctoral fellows, faculty members, and staff.

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