An international team of researchers, including one of Indian origin, 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, led by human genetic researchers at the University of British Columbia and Vancouver Coastal Health, 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,” Farrer said.
“We are forever indebted to their generosity and contribution to better understanding – and ultimately finding a cure – for this debilitating disease,” he said.
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,” Bruce Guenther, spokesperson for the family that participated in the study, said.
“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,’ he said.
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 findings of the study will be presented at the 16th International Congress of Parkinson’s Disease and Movement Disorders.