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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.

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