Brussels, 16 Apr 2004
A team of European and US scientists at the University College London's Institute of Neurology has discovered a new gene involved in the early development of Parkinson's disease.
In a study of three families with early onset disease in Spain and Italy, Professor Nicholas Wood and his team identified a new gene that produces a malfunctioning protein. The discovery could pave the way for new treatments for Parkinson sufferers.
'It is a completely novel and, to my mind, completely unexpected gene/protein to be involved in Parkinson's disease,' said Professor Wood. 'It opens the door to a whole new area of Parkinson's disease, and perhaps other neurodegenerative disease research.'
Parkinson's disease is a degenerative, neurological condition for which there is currently no cure. The first symptoms of the condition generally occur when a sufferer is aged around 60, and it normally affects one to two per cent of the ageing population. It is not generally a genetic condition, but there are some cases where it does run in families.
The gene described by the scientists was identified in three families in which the disease appears much earlier in life. The study found that members of those families all had a mutation in the PINK1 gene. The mutation leads to a dysfunction of the protein, which in turn reduces the ability of brain cells to protect themselves from stress.
The researchers hope that a better understanding of the gene, the protein, and what occurs in the cells, might lead to research into other genetic factors which influence the probability of developing Parkinson's.
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 and 'could potentially lead to new drugs', said Professor Wood.
The findings are also important because they help 'confirm a suspicion about the role of mitochondrial malfunction in Parkinson's and other neurological diseases,' said Dr Robert Nussbaum, one of scientists on the team. 'For many years, it has been suggested that there is a connection between Parkinson's disease and mitochondrial dysfunction. We have never really understood what defects inside the mitochondria might lead to dysfunction. Now this points to a protein, or set of proteins, that when altered can induce the disease. This is a process that we didn't know existed, and it could be involved in the more common forms of Parkinson's disease.'
This could also have repercussions on research into other neurodegenerative diseases like Alzheimer's, in particular the role of oxidative stress in brain cell degeneration.
'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,' explained Professor Wood.
'We are very excited about the results of Professor Wood's research. However, we are still only in the very early stages. It must also be stressed that this does not indicate that Parkinson's is a widely hereditary condition,' stated Linda Kelly, chief executive of the Parkinson's Disease Society.