UCL scientists have discovered a new gene implicated in the early development of Parkinson's disease. In a study of families with early onset disease, Professor Nick Wood and colleagues at University College London's Institute of Neurology identified a novel gene which produces a malfunctioning protein that could pave the way for new treatments for Parkinson sufferers.
The international study involving 14 research centres, published today in Science Express, mapped the genes in two Italian and one Spanish family where cousins had married and produced offspring.
Following earlier work tracing the chromosome location of the gene responsible for this form of familial Parkinson's disease, researchers were able to pinpoint mutations in the gene of the affected families. The mutations in PINK1 (PTEN-induced kinase 1) leads to a dysfunction of the protein, which in turn reduces the ability of brain cells to protect themselves from stress.
Although likely to be found in only a small percentage of Parkinson sufferers, the discovery of this gene has revealed a completely novel and hitherto unconsidered pathway which opens the way to identifying new forms of therapeutic treatment.
The finding also places mitochondrial function at the centre of research into Parkinson's disease and potentially other neurodegenerative diseases like Alzheimer's, in particular the role of oxidative stress in brain cell degeneration.
Professor Nick Wood says: "This discovery will help us to understand better the molecular events which lead to this incurable neurodegenerative disease. It is really the start of the more challenging investigation into what this protein does normally and how, when it is mutated, it leads to Parkinson's disease."
Parkinson's disease normally affects 1 to 2 percent of the ageing population.