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UK: New Genetic Clue to Parkinson's Found By Ed Edelson HealthDay Reporter THURSDAY, April 15 (HealthDayNews) -- Identification of a gene that causes a rare, inherited form of Parkinson's disease could revolutionize research on the condition and other neurological disorders, researchers report. "It is a completely novel and, to my mind, completely unexpected gene/protein to be involved in Parkinson's disease," said Dr. Nicholas W. Wood, a professor of clinical neurology and neurogenetics at the Institute of Neurology in London and lead author of a report on the discovery in the April 16 issue of Science. "It opens the door to a whole new area of Parkinson's disease, and perhaps other neurodegenerative disease research." Parkinson's disease is a progressive disorder caused by degeneration of nerve cells in the part of the brain that controls movement. First described as "the shaking palsy" in 1817, it affects an estimated 500,000 Americans, with 50,000 new cases reported each year. The most famous Parkinson's patient is Pope John Paul II. The first symptoms of the condition generally occur at about age 60. The gene described by Wood and collaborators in three European countries and the United States was identified in three families in which the disease appears much earlier in life. Close study found that members of those families all had a mutation of a gene designated PINK1, which makes a protein active in mitochondria, cellular units that convert food into energy. A first guess is the normal version of the gene protects mitochondria in brain cells against damage, but that is just a starting point, Wood said. "We need to know more about what the protein does normally, as well as when it is mutated," he said. "This will involve structural chemistry, biochemistry, cell and animal model systems." Another question is the role the gene might play in the common form of the condition, Wood said. "I do not think primary pathogenic mutations in this gene are likely to contribute to lots of common forms of Parkinson's disease, but we will need to sequence a lot of individuals to be certain what proportion of cases are due to mutations in this gene," he said. The discovery has some potential applications to the detection and treatment of Parkinson's disease, Wood said. "Initially, I think it will be most useful as a genetic test, to sequence at-risk individuals and counsel the families," he said. "However, this new area does of course open the way for potential novel therapeutic targets." It's an important finding because it helps confirm a suspicion about the role of mitochondrial malfunction in Parkinson's and other neurological diseases, said Dr. Robert Nussbaum, chief of the genetic diseases research branch of the National Human Genome Research Institute, a part of the National Institutes of Health. His group helped identify one of the families in the study. "For many years, it has been suggested that there is a connection between Parkinson's disease and mitochondrial dysfunction," Nussbaum said. "We've 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." More information The role of genetics in Parkinson's disease is explained by the National Human Genome Research Institute, while you can get background on the condition from the National Institute of Neurological Disorders and Stroke. SOURCE: Forbes http://www.forbes.com/lifestyle/health/feeds/hscout/2004/04/15/hscout518408.html * * * UK: Parkinson's Disease Gene Is Found Thursday, 15 April, 2004, 18:25 GMT 19:25 UK Scientists have identified a gene which causes some cases of Parkinson's Disease. The findings could open up new avenues of research into other genetic factors which cause or predispose people to develop the disease. Researchers at London's Institute of Neurology say in Science that they could also lead to new treatments. Parkinson's is a degenerative, neurological condition for which there is currently no cure. It is not generally a genetic condition, but there are some cases where it does run in families. This is the first time a Parkinson's gene has been identified by researchers in the UK. Professor Wood's team studied three families from Italy and Spain which had several members with the disease. Researchers already knew that the fault lay somewhere on chromosome one. When they analysed DNA from the families, they discovered mutations in the PINK gene which provides coded instructions for a protein which affects chemical reactions within cells. It is hoped that understanding more about the gene, the protein, and what happens in the cells might lead to research into other genetic factors which affect people's chances of developing Parkinson's. 'Early stages' Professor Nicholas Wood told BBC News Online: "Any clues we can get about the causes of Parkinson's are good news. "This finding could potentially lead to new drugs." "The fact that the gene behaves in a way not even considered before opens up completely new avenues for research." He added: "The next phase will be to look at how this gene operates normally and compare it to how it behaves when it is in the mutant form responsible for a person's Parkinson's. "When this has been established other possibilities of researching new therapies to deal with the new and different cell activity can be tackled." Linda Kelly, chief executive of the Parkinson's Disease Society said: "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." Story from BBC NEWS: http://news.bbc.co.uk/go/pr/fr/-/1/hi/health/3630245.stm Reference: Gene therapy for Parkinson's Thursday, 10 October, 2002, 17:55 GMT 18:55 UK http://news.bbc.co.uk/1/hi/health/2316613.stm * * * New Hereditary Gene Linked To Parkinson's Disease Public release date: 15-Apr-2004 Contact: Jenny Gimpel [log in to unmask] 44-207-679-9739 University College London New hereditary gene linked to Parkinson's disease 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 UCL'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. ### SOURCE: EurekAlert, DC http://www.eurekalert.org/pub_releases/2004-04/ucl-nhg041504.php * * * ---------------------------------------------------------------------- To sign-off Parkinsn send a message to: mailto:[log in to unmask] In the body of the message put: signoff parkinsn