Skip to main content
Accessibility|Contact|Privacy|Terms|Cookies

Parkinson's Disease Gene Identified

  • Published: 2012-06-27 (Revised/Updated 2017-09-22) : Author: University of British Columbia
  • Synopsis: Researchers have identified the latest gene associated with typical late-onset Lewy body Parkinsons disease (PD).

Quote: "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..."

Main Document

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

Parkinson's Disease - (PD) belongs to a group of conditions called motor system disorders, which are the result of the loss of dopamine-producing brain cells. The four primary symptoms of PD are tremor, or trembling in hands, arms, legs, jaw, and face; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance and coordination. At present, there is no cure for PD, but a variety of medications provide dramatic relief from the symptoms. PD is both chronic, meaning it persists over a long period of time, and progressive, meaning its symptoms grow worse over time. The progression of Parkinson's disease and the degree of impairment vary from individual to individual.

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.

Prof. Matthew Farrer has identified a new gene mutation linked to Parkinson's disease thanks to the help of a Saskatchewan Mennonite family. (Photo: Martin Dee)
About This Image: Prof. Matthew Farrer has identified a new gene mutation linked to Parkinson's disease thanks to the help of a Saskatchewan Mennonite family. (Photo: Martin Dee)
"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.

Parkinson's disease (PD) is the second most common chronic neurodegenerative disorder after Alzheimer's.

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 Center at UBC and Vancouver Coastal Health Research Institute. He has had an adjunct Faculty in Medicine (Neurology) at the University of Saskatchewan since 2003.

Discussion

• Have your say! Add your comment or discuss this article on our FaceBook Page.

Similar Topics

1 : Protein Levels in Spinal Fluid Correlate to Posture and Gait Difficulty in Parkinson's Disease : Rush University Medical Center.
2 : Silverado Parkinson's Disease and Movement Disorders Program : Silverado.
3 : Online Parkinson's Disease Awareness Training Program for First Responders and General Public : American Parkinson Disease Association.
4 : Manganese Exposure from Welding Fumes May Cause Early Parkinson-Like Symptoms : American Academy of Neurology.
5 : Rasagiline Weekly Patch for Parkinson's Disease : Teikoku Pharma USA.
From our Parkinson's Disease section - Full List (45 Items)


Submit disability news, coming events, as well as assistive technology product news and reviews.


Loan Information for low income singles, families, seniors and disabled. Includes home, vehicle and personal loans.


Famous People with Disabilities - Well known people with disabilities and conditions who contributed to society.


List of awareness ribbon colors and their meaning. Also see our calendar of awareness dates.


Blood Pressure Chart - What should your blood pressure be, and information on blood group types/compatibility.





1 : Turnstone Center Designated as Official Paralympic Training Site by US Olympic Committee
2 : Help Your Child in School by Adding Language to The Math
3 : 50% of Retirees Saw Little or No COLA Increase in Net 2018 Social Security Benefits
4 : Turnstone Endeavor Games Concludes with National Records Broken
5 : Spinning in Circles and Learning From Myself by Tsara Shelton
6 : St. Louis HELP Medical Equipment Donation Drive Generates Record-Breaking Results
7 : People Who Snore Suffer from Palate Nerve and Muscle Damage
8 : How Our Ancestors with Autistic Traits Led a Revolution in Ice Age Art


Disclaimer: This site does not employ and is not overseen by medical professionals. Content on Disabled World is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of a physician or other qualified health provider with any questions you may have regarding a medical condition. See our Terms of Service for more information.

Reporting Errors: Disabled World is an independent website, your assistance in reporting outdated or inaccurate information is appreciated. If you find an error please let us know.

© 2004 - 2018 Disabled World™