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 Building a brain, cell by cell: Researchers make a mini neuron network (of two)
23.05.2018 | Institute of Industrial Science, The University of Tokyo

nachricht Research reveals how order first appears in liquid crystals
23.05.2018 | Brown University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: LZH showcases laser material processing of tomorrow at the LASYS 2018

At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.

At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...

Im Focus: Self-illuminating pixels for a new display generation

There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?

At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...

Im Focus: Explanation for puzzling quantum oscillations has been found

So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics

Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...

Im Focus: Dozens of binaries from Milky Way's globular clusters could be detectable by LISA

Next-generation gravitational wave detector in space will complement LIGO on Earth

The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...

Im Focus: Entangled atoms shine in unison

A team led by Austrian experimental physicist Rainer Blatt has succeeded in characterizing the quantum entanglement of two spatially separated atoms by observing their light emission. This fundamental demonstration could lead to the development of highly sensitive optical gradiometers for the precise measurement of the gravitational field or the earth's magnetic field.

The age of quantum technology has long been heralded. Decades of research into the quantum world have led to the development of methods that make it possible...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Save the date: Forum European Neuroscience – 07-11 July 2018 in Berlin, Germany

02.05.2018 | Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

 
Latest News

Research reveals how order first appears in liquid crystals

23.05.2018 | Life Sciences

Space-like gravity weakens biochemical signals in muscle formation

23.05.2018 | Life Sciences

NIST puts the optical microscope under the microscope to achieve atomic accuracy

23.05.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>