Study provides first link between 2 major Parkinson's genes

April 4, 2011, Ottawa Hospital Research Institute

As Parkinson's Awareness Month gets underway, a Canadian-led international study is providing important new insight into Parkinson's disease and paving the way for new avenues for clinical trials. The study, led by Dr. Michael Schlossmacher in Ottawa, provides the first link between the most common genetic risk factor for Parkinson's and the hallmark accumulation of a protein called alpha-synuclein within the brains of people with Parkinson's. It is published in the most recent edition of the journal Annals of Neurology.

"This study addresses a major riddle in Parkinson's disease," explains Dr. Schlossmacher, who holds the Canada Research Chair in Parkinson's disease at the Ottawa Hospital Research Institute and the University of Ottawa, and is also an active neurologist at The Ottawa Hospital. "Thanks to pioneering research done by geneticists in the United States and Israel, we've known for six years now that 10-12 per cent of people with Parkinson's have a mutation in one copy of a gene called glucocerebrosidase, or GBA. However, until now we have not understood how these mutations contribute to the disease and how they fit with other pieces of the puzzle, such as the accumulation of alpha-synuclein in the brain."

Alpha-synuclein has been likened to the "" of Parkinson's because it gradually accumulates in the brain as Parkinson's progresses. Affected show signs of injury, and when they die, this leads to the tremors, stiffness and slowness that are typically associated with Parkinson's disease.

Using a series of experimental laboratory models, Dr. Schlossmacher and his colleagues have now shown that the GBA mutations found in Parkinson's patients prevent brain cells from efficiently breaking down and removing alpha-synuclein.

"While the GBA mutations don't cause Parkinson's disease on their own, they do significantly increase the risk of developing the disease, probably by making people susceptible to the accumulation of alpha-synuclein," says Dr. Schlossmacher. "This could explain why people with GBA mutations frequently develop Parkinson's symptoms four to five years earlier than those without them."

"These findings are particularly exciting because if they are confirmed by other researchers, they could significantly accelerate the development of new treatments for Parkinson's," he adds. "Several companies have developed or are actively working on drugs that target GBA for another disease called Gaucher disease, and our research suggests that these drugs could potentially be useful in Parkinson's, and in a related disease called Lewy body dementia."

In addition to researchers in Ottawa, this study also involved researchers from Brigham & Women's Hospital at Harvard Medical School (where the Schlossmacher team first began to explore the link), Genzyme Corporation, Cincinnati Children's Hospital Medical Centre, Christian-Albrechts University and Purdue University. It was funded by the Canada Research Chairs Program, The Ottawa Hospital Department of Medicine, the Michael J. Fox Foundation, the National Institutes of Health (USA), and Genzyme Corporation.

Related Stories

Recommended for you

Every experience that the brain perceives is unique

February 20, 2018
Neuronal activity in the prefrontal cortex represents every experience as "novel." The neurons adapt their activity accordingly, even if the new experience is very similar to a previous one. That is the main finding of a ...

Brain immune system is key to recovery from motor neuron degeneration

February 20, 2018
The selective demise of motor neurons is the hallmark of Lou Gehrig's disease, also known as amyotrophic lateral sclerosis (ALS). Yet neurologists have suspected there are other types of brain cells involved in the progression ...

Electrical implant reduces 'invisible' symptoms of man's spinal cord injury

February 19, 2018
An experimental treatment that sends electrical currents through the spinal cord has improved "invisible" yet debilitating side effects for a B.C. man with a spinal cord injury.

Brainwaves show how exercising to music bends your mind

February 18, 2018
Headphones are a standard sight in gyms and we've long known research shows listening to tunes can be a game-changer for your run or workout.

To sleep, perchance to forget

February 17, 2018
The debate in sleep science has gone on for a generation. People and other animals sicken and die if they are deprived of sleep, but why is sleep so essential?

Newborn babies who suffered stroke regain language function in opposite side of brain

February 17, 2018
It's not rare that a baby experiences a stroke around the time it is born. Birth is hard on the brain, as is the change in blood circulation from the mother to the neonate. At least 1 in 4,000 babies are affected shortly ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.