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I tell you, Tom, I've been talking mutations for years. I believe the path to PD'sville can be plotted! It seems to me you need to see THE HOW DID WE GET HERE ANYWAY SURVEY! E of the headdress ----- Original Message ----- From: "Tom Berdine" <[log in to unmask]> To: <[log in to unmask]> Sent: Friday, November 22, 2002 10:50 PM Subject: Mutations identified for early Parkinson's > http://www.reutershealth.com/archive/2002/11/21/eline/links/20021121elin > 001.html > > > > Last Updated: 2002-11-21 16:32:31 -0400 (Reuters Health) > > By Merritt McKinney > > NEW YORK (Reuters Health) - European scientists have identified a gene > that is defective in a rare, early-onset form of Parkinson's disease. > > Although the gene mutations are unlikely to cause the more common form > of Parkinson's, studying the rare version of the disease may lead to a > better understanding of what causes the neurological disease, according > to the study's lead author. > > Parkinson's disease causes tremor, muscle rigidity and movement > problems. The underlying cause is the slow loss of neurons that produce > the neurotransmitter dopamine, a brain chemical involved in movement. > Current Parkinson's therapy relieves symptoms, but it does not slow the > progression of the disease. > > Most cases of Parkinson's disease do not run in families, but some > families are prone to a rare, early-onset type of the disease. > > Dr. Vincenzo Bonifati of Erasmus Medical Center Rotterdam in the > Netherlands and La Sapienza University in Rome, Italy, and colleagues > discovered the genetic mutations when they mapped the genes of two > families with a history of early-onset Parkinson's. > > The families, one in Italy and the other in the Netherlands, had a > mutation in a gene for a protein called DJ-1, the researchers report in > Sciencexpress, the advance online edition of the journal Science. In the > Dutch family, the DJ-1 protein was completely absent, while in the > Italian family, it was inactive. > > In comments to Reuters Health, Bonifati said that "until now, only two > genes had been firmly implicated in Parkinson's disease: alpha-synuclein > and parkin." The discovery of another mutated gene represents a "new key > to clarify the mechanisms underlying Parkinson's disease," he said. > > The normal purpose of the DJ-1 protein is a mystery, but Bonifati said > that there is preliminary evidence that it plays a role in protecting > cells from oxidation, a process in which cell-damaging substances called > free radicals accumulate. > > "This is intriguing," he said, "because it is well known that oxidative > damage occurs in the brain in classical Parkinson's disease forms." > > According to Bonifati, "Clarifying why defects in the DJ-1 function lead > to development of parkinsonism will foster our understanding of the > mechanisms of the common forms of Parkinson's disease." > > SOURCE: Sciencexpress 2002;10.1126/science.1077209. > > --- > Outgoing mail is certified Virus Free. > Checked by AVG anti-virus system (http://www.grisoft.com). > Version: 6.0.408 / Virus Database: 230 - Release Date: 10/24/2002 > > ---------------------------------------------------------------------- > To sign-off Parkinsn send a message to: mailto:[log in to unmask] > In the body of the message put: signoff parkinsn ---------------------------------------------------------------------- To sign-off Parkinsn send a message to: mailto:[log in to unmask] In the body of the message put: signoff parkinsn