Brussels, Oct 2004
A team of researchers from the UK, the US and Spain have discovered a gene which, when mutated, causes Parkinson's disease in some families, and which could open up new avenues of research into the disease.
While Parkinson's disease is not usually inherited, this discovery could still offer hope for fighting the more common form of the disease as, in the past, the study of rare familial forms of a condition has often provided insights into the workings of the more common form of the disease.
The study was carried out by Andrew Singleton from the US National Institute on Ageing, Jordi Perez-Tur from the Valencia Institute of Biomedicine, and Nick Wood of the London Institute of Neurology.
To isolate the gene, the team studied five families from the Basque region of Spain and the UK with a history of Parkinson's disease. The researchers identified a region of chromosome 12 shared by all members of the Basque families, and systematically assessed each gene for mutations that might cause disease. They identified two mutations in a single gene - one linked with Parkinson's in the Basque families, and another associated with the disease in the UK family.
'The discovery of this cluster of Basque families with Parkinson's disease helped us to narrow the genetic region we were interested in,' explained Dr Singleton.
The gene they identified in this study - PARK8 - encodes a protein which the researchers dubbed 'dardarin', from the Basque word dardara, meaning tremor - one of the major symptoms of Parkinson's disease. Having identified this gene within a so called 'founder' population, namely the Basques, the researchers hope that future studies will be able to isolate other genes that interact with this one, and assess their function in Parkinson's disease in more genetically diverse populations.
Dr Singleton says that other teams are already working on isolating additional genes that might play a role in the disease, and he expressed a belief that some would find gene mutations in patients with the more common form of Parkinson's as well as those with a family history of the disease.
Dr Singleton concluded by recognising the role that international cooperation had played in achieving this discovery: 'This was a true collaborative venture that we couldn't have done working separately.'