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 Source BBC News
Jan 18, 2005
Target found for Parkinson's test
A gene mutation which could be behind one in 25 cases of Parkinson's
disease has been discovered by scientists.
It is hoped the findings could lead to the earlier detection of the
disease and the development of treatments.

Three separate studies by US, UK and Dutch research teams are published
in The Lancet medical journal.

Parkinson's, for which there is no cure, is a degenerative disease in the
part of the brain controlling movement and affects 3% of people over 75.

'Dardarin' protein

Each of the three studies looked at genetic faults in the LRRK2 gene.

It controls the action of a protein named dardarin by researchers, after
the Basque word dardara, which means tremor. Scientists do not yet fully
understand what the protein's intended function is.

The mutation of the gene, found on a region of chromosome 12, is called
PARK8.

It was identified in a study of five families with a history of
Parkinson's disease who lived in the Basque region of northern Spain, and
in England

The US study, by scientists from Indiana University and Cincinnati
Children's Hospital, involved 767 Parkinson's disease patients from 358
families across America.

It was found that 34, or just under 5%, of patients carried the same gene
mutation.

In an Institute of Neurology study, 482 people from families without a
known history of Parkinson's were studied and eight were found to have
the same mutation.

In the third study, by researchers from Erasmus MC in the Netherlands,
the mutation was present in four out of 61 families with a history of
Parkinson's disease.

From the results of all three studies the researchers concluded that the
mutation appears to be responsible for up to 5% of Parkinson's in people
with a family history of the disorder and up to 2% of cases in people who
do not have a family history of the disease.

'New treatments'

Andrew Singleton, of the National Institute of Aging's said: "Knowing
that this mutation is not only important in familial forms of disease,
but in typical sporadic disease, where there is no strong family history,
could lead to earlier detection of Parkinson's disease.

"Further study of how this gene works also might help scientists identify
new treatments."

Dr William Nichols, of the Cincinnati Children's Hospital suggested
screening for the mutation would soon become a key part of genetic
testing for Parkinson's.

And Linda Kelly, the chief executive of the UK's Parkinson's Disease
Society, said: "If further research could uncover why this leads to
neurodegeneration and the symptoms of Parkinson's then this could lead to
new improved treatments and potentially a cure for some people with the
condition."

Story from BBC NEWS:
http://news.bbc.co.uk/go/pr/fr/-/1/hi/health/4180989.stm

Published: 2005/01/18 05:47:02 GMT

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