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Gene clue to Parkinson's disease

21 January 2005
By BioNews
Appeared in BioNews 292

Mutations in gene involved in familial Parkinson's disease (PD) could be responsible for one in 25 cases of PD worldwide, new research shows. Three studies published in the Lancet have pinpointed a mutation in the LRRK2 gene that could cause around five per cent of inherited cases of PD, and two per cent of isolated cases. The LRRK2 gene was identified last year, by an international team of scientists who studied the inheritance of the disease in four affected families from the Basque region of Spain. Testing for mutations in the gene - which makes a protein called dardarin, after the Basque word for 'tremor' - could lead to early identification of the disease in some people, say the scientists.

People with PD are affected by tremors, stiff muscles and slow movements, caused by a gradual loss of nerve cells in an area of the brain controlling movement. It is not known what triggers this loss, but PD is not normally inherited. However, the illness does occasionally run in families, where the symptoms often appear at a younger age than in non-inherited cases. Researchers think that there are around ten different types of inherited PD, each involving a different gene.

In the latest studies, three teams based in the Netherlands, the US and the UK looked for LRRK2 gene mutations in both familial and isolated cases of PD. Scientists from the UK's National Hospital for Neurology and Neurosurgery looked at 482 PD patients who did not have a family history of the illness. They identified eight patients with LRRK2 mutations, implicating the gene in non-inherited cases of PD, rather than just familial cases as was previously thought.

The Dutch team, from the Erasmus Medical Centre in Rotterdam, studied 61 families affected by PD, and found that four unrelated families had inherited one copy of the LRRK2 gene. The US scientists, based at the Cincinnati Children's Hospital Medical Centre, looked at 767 affected people from 358 families, and found that 35 patients from 20 different families had LRRK2 gene mutations - around five per cent of all these inherited cases.

In a commentary accompanying the studies, scientist Alexis Brice says that 'a number of issues' need to be resolved before the findings can be put into clinical practice, such as fully evaluating the disease risk associated with carrying the gene mutation. He also says that genetic testing for the mutation will raise ethical issues, since there is no preventative treatment for PD, so testing offers no direct medical benefit for patients. Linda Kelly, chief executive of the UK's Parkinson's Disease Society, welcomed the findings, saying it 'could lead to new treatments and potentially a cure for some people with the condition'.

Gene Mutation Linked to Cause of Parkinson's Disease
WebMd |  18 January 2005
Studies Link Gene Mutation to Parkinson's Disease
Reuters |  18 January 2005
Target found for Parkinson's test
BBC News Online |  18 January 2005
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