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Parkinson's disease gene found

19 April 2004
By BioNews
Appeared in BioNews 254

The identification of a gene involved in a rare hereditary form of Parkinson's disease could lead to new treatments for this incurable brain disorder, UK scientists say. Families affected by a severe, inherited form of the illness have an altered version of a gene called PINK1 (PTEN-induced kinase 1), researchers at the Institute of Neurology in London report in the journal Science. 'It opens the door to a whole new area of Parkinson's disease, and perhaps other neurodegenerative disease research', said team leader Nicholas Wood.

People with Parkinson's disease are affected by tremors, stiff muscles and slow movements, caused by a gradual loss of nerve cells in an area of the brain controlling movement. It is not known what triggers this loss, but Parkinson's disease is not normally inherited. However, in a few rare cases, the illness does run in families, where the symptoms appear at a younger age than in non-inherited cases. In the latest study, published online in Science, the researchers looked at three such families from Italy and Spain. They found that affected members all had mutations in the PINK1 gene, which makes a protein located in the mitochondria, the energy-producing 'powerhouses' of the cell. 'It is a completely novel and, to my mind, completely unexpected gene/protein to be involved in Parkinson's disease', said Wood.

The discovery would initially be useful for offering predictive genetic testing for individuals at risk of developing the hereditary form of Parkinson's disease. But, said Wood, it also opens the way for 'potential novel therapeutic targets'. Researchers have suspected for some time that there might be a connection between Parkinson's disease and energy production in the brain cells. Dr Robert Nussbaum, of the US National Human Genome Research Institute, said the findings pointed to a set of proteins, which 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', he added.

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