An international team led by Matthew Farrer, Canada Excellence Research Chair in Neurogenetics and Translational Neuroscience at The University of British Columbia, has identified the latest gene associated with typical late-onset Lewy body Parkinson’s disease. The team made the discovery with the help of a Canadian Mennonite family of Dutch-German-Russian ancestry.
“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,” said Farrer, who also holds 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.”
Twelve of the 57 members of the Saskatchewan family who participated in the study had previously been diagnosed with Parkinson’s disease. Farrer said that unequivocal confirmation of the DNAJC13 gene’s linkage with Parkinson’s required DNA samples from thousands of patients with the disease, as well as from healthy individuals. He called the new discovery the “missing link,” as it helps to unify past genetic discoveries in Parkinson’s.
The DNAJC13 mutation was discovered using “massively parallel” DNA sequencing. Conclusive evidence of its connection to Parkinson’s came from identifying the gene mutation in several other families across many Canadian provinces, including British Columbia.
Farrer shared the discovery 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?).
Further information about the breakthrough can be found on the University of British Columbia's website.