Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Parkinson's disease gene identified with help of Mennonite family: UBC-VCH research

27.06.2012
An international team led by human genetic researchers at the University of British Columbia and Vancouver Coastal Health has identified the latest gene associated with typical late-onset Lewy body Parkinson's disease (PD), with the help of a Canadian Mennonite family of Dutch-German-Russian ancestry.

Twelve of the 57 members of the Saskatchewan family who participated in the study had previously been diagnosed with PD.

UBC Medical Genetics Prof. Matthew Farrer, who led the research, notes that unequivocal confirmation of the gene's linkage with PD required DNA samples from thousands of patients with PD and healthy individuals. He refers to the new discovery as the "missing link," as it helps to unify past genetic discoveries in PD.

"A breakthrough like this would not be possible without the involvement and support of the Saskatchewan Mennonite family who gave up considerable time, contributed clinical information, donated blood samples, participated in PET imaging studies and, on more than one occasion following the death of an individual, donated brain samples," says Farrer, Canada Excellence Research Chair in Neurogenetics and Translational Neuroscience and the Dr. Donald Rix BC Leadership Chair in Genetic Medicine.

"We are forever indebted to their generosity and contribution to better understanding – and ultimately finding a cure – for this debilitating disease."

The mutation, in a gene called DNAJC13, was discovered using massively parallel DNA sequencing. Conclusive evidence came from the identification of the gene mutation in several other families across many Canadian provinces, including British Columbia.

"This discovery is not only significant for researchers, but also for those families carrying this genetic mutation and afflicted with this disease in that it offers hope that something good might yet result from their suffering," says Bruce Guenther, President of the Mennonite Brethren Biblical Seminary Canada, a community leader and spokesperson for the family that participated in the study.

"The family involved is very grateful for the research team's respectful, collaborative and sensitive approach, and we hope that this enables the discovery of more effective treatments, and hopefully eventually a cure."

The discovery resulted from a longstanding collaboration with neurology colleagues, Ali and Alex Rajput at the University of Saskatchewan and Silke Cresswell and Jon Stoessl at UBC. The research team also includes scientists from McGill University, the Mayo Clinic in Florida, and St. Olav's Hospital in Norway.

Farrer shared the discovery last week with the medical community as part of his keynote speech in Dublin today at the 16th International Congress of Parkinson's Disease and Movement Disorders (Plenary Session V: Is it time to change how we define Parkinson's disease?) Details of the study was presented at the conference and is being submitted for publication.

"The identification of DNAJC13 will certainly be of interest to people around the world who trace their family history to the nineteenth-century Mennonite colonies in Russia, and who have family members suffering from Parkinson's disease," Guenther adds.

BACKGROUND | New Parkinson's gene identified

Parkinson's disease (PD) is the second most common chronic neurodegenerative disorder after Alzheimer's. According to the U.S. National Institutes of Health, Parkinson's disease affects more than one million people in North America and more than four million people worldwide. The late-onset form is the most common type of PD. The risk of developing late-onset PD increases with age but most patients begin showing symptoms in their late 60s and early 70s.

Once considered a sporadic disease, latest studies have shown genetic components of PD that provide the foundation for neuroscience research and potential treatment targets.

Approximately 15 per cent of people with PD have a family history of the disorder. There is a higher rate of PD in families where two or more members are affected, possibly due to a shared genetic susceptibility among blood relatives.

UBC Prof. Matthew Farrer is an internationally renowned expert in the genetic aspects of PD and related dementia. He and his team have helped identified many genes involved in PD by analyzing DNA from families throughout the world.

Farrer and his research team are based at the Department of Medical Genetics at UBC's Faculty of Medicine, and at the Brain Research Centre at UBC and Vancouver Coastal Health Research Institute. He has had an adjunct Faculty in Medicine (Neurology) at the University of Saskatchewan since 2003.

For more information on the genetic aspects of PD, visit http://www.can.ubc.ca/parkinson-disease/genetics/.

Answers to frequently asked questions about genetic testing are available at http://www.can.ubc.ca/parkinson-disease/genetics/genetic-testing-faq/.

Photos of Prof. Matthew Farrer are available at http://www.publicaffairs.ubc.ca/?p=51691

Brian Lin | EurekAlert!
Further information:
http://www.ubc.ca

More articles from Life Sciences:

nachricht Two Group A Streptococcus genes linked to 'flesh-eating' bacterial infections
25.09.2017 | University of Maryland

nachricht Rainbow colors reveal cell history: Uncovering β-cell heterogeneity
22.09.2017 | DFG-Forschungszentrum für Regenerative Therapien TU Dresden

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: LaserTAB: More efficient and precise contacts thanks to human-robot collaboration

At the productronica trade fair in Munich this November, the Fraunhofer Institute for Laser Technology ILT will be presenting Laser-Based Tape-Automated Bonding, LaserTAB for short. The experts from Aachen will be demonstrating how new battery cells and power electronics can be micro-welded more efficiently and precisely than ever before thanks to new optics and robot support.

Fraunhofer ILT from Aachen relies on a clever combination of robotics and a laser scanner with new optics as well as process monitoring, which it has developed...

Im Focus: The pyrenoid is a carbon-fixing liquid droplet

Plants and algae use the enzyme Rubisco to fix carbon dioxide, removing it from the atmosphere and converting it into biomass. Algae have figured out a way to increase the efficiency of carbon fixation. They gather most of their Rubisco into a ball-shaped microcompartment called the pyrenoid, which they flood with a high local concentration of carbon dioxide. A team of scientists at Princeton University, the Carnegie Institution for Science, Stanford University and the Max Plank Institute of Biochemistry have unravelled the mysteries of how the pyrenoid is assembled. These insights can help to engineer crops that remove more carbon dioxide from the atmosphere while producing more food.

A warming planet

Im Focus: Highly precise wiring in the Cerebral Cortex

Our brains house extremely complex neuronal circuits, whose detailed structures are still largely unknown. This is especially true for the so-called cerebral cortex of mammals, where among other things vision, thoughts or spatial orientation are being computed. Here the rules by which nerve cells are connected to each other are only partly understood. A team of scientists around Moritz Helmstaedter at the Frankfiurt Max Planck Institute for Brain Research and Helene Schmidt (Humboldt University in Berlin) have now discovered a surprisingly precise nerve cell connectivity pattern in the part of the cerebral cortex that is responsible for orienting the individual animal or human in space.

The researchers report online in Nature (Schmidt et al., 2017. Axonal synapse sorting in medial entorhinal cortex, DOI: 10.1038/nature24005) that synapses in...

Im Focus: Tiny lasers from a gallery of whispers

New technique promises tunable laser devices

Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...

Im Focus: Ultrafast snapshots of relaxing electrons in solids

Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!

When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

“Lasers in Composites Symposium” in Aachen – from Science to Application

19.09.2017 | Event News

I-ESA 2018 – Call for Papers

12.09.2017 | Event News

EMBO at Basel Life, a new conference on current and emerging life science research

06.09.2017 | Event News

 
Latest News

LaserTAB: More efficient and precise contacts thanks to human-robot collaboration

25.09.2017 | Trade Fair News

Highest-energy cosmic rays have extragalactic origin

25.09.2017 | Physics and Astronomy

Two Group A Streptococcus genes linked to 'flesh-eating' bacterial infections

25.09.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>