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Another Parkinsonís Disease Gene is Found

A new gene associated with familial Parkinsonís disease (PD) Ė the fifth - has been discovered by European researchers, according to a report in the April 15, 2004 online edition of Science. The breakthrough reveals another important piece in the PD puzzle.

Efforts to gain such an understanding have increased dramatically with the advent of new and faster biotechnology. First was the discovery, in 1998, of a gene called Parkin, which has since been found to be associated with up to 18 percent of young-onset (that is, younger than 45) cases of sporadic PD and up to 50 percent of young-onset PD families (families with one or more incidence of Parkinsonís). Then came the discovery of mutations in a gene called DJ-1, associated with young-onset PD (though very rare).

In an effort to identify and track additional PD genes, scientists in Europe began to focus on young-onset PD families who were unassociated with previously-discovered PD genes. They found an area on chromosome 1p35-36 which they suspected harbored a gene associated with PD in a small number of families. Their suspicions were confirmed when they discovered mutations in a gene called PTEN-induced kinase 1(PINK1) in three of the families. At first PINK1 was not an obvious candidate since its mechanism of action appeared different to the PD genes that had previously been found. However, on further examination, this gene appeared to play a role in protecting the neurons from stress-induced dysfunction of the mitochondria (the energy source of every cell). Although more research needs to be done to ascertain the precise role of PINK1, its involvement in the mitochondrial pathway fits in with our knowledge that a key feature of Parkinsonís is mitochondrial impairment.

Dr. Juliette Harris, Genetic Counselor at the Division of Movement Disorders at Columbia University and PDF advisor explains the significance of this latest discovery for people with PD. Her comment: ďFirst, the initial evidence suggests that PINK1 will probably, in a similar fashion to Parkin and DJ-1, be associated with predominantly young-onset PD. The extent to which PINK1 accounts for young-onset cases is not yet known. What we do know is that the majority of people with Parkinsonís develop symptoms when they are over 60 and have no family history of PD. This suggests that genes play only a minor role in the development of PD for the majority of people who have the most common form of the disease. However, researchers believe that the discovery of genes associated with familial and young-onset PD will provide a keen insight into how genes regulate dopamine-producing neurons and how our nervous system can be protected from damage. Such an understanding will, we hope, lead us to the causes of Parkinsonís and give us the power to develop new and innovative approaches to treatment and care.Ē

Source Date: May 06 2004