Page URL: https://www.bionews.org.uk/page_89535

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'.

SOURCES & REFERENCES
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
RELATED ARTICLES FROM THE BIONEWS ARCHIVE
27 April 2009 - by Ben Jones 
The UK's Nuffield Council on Bioethics, an independent group of experts, is launching a new inquiry into the growing - and largely unregulated - provision of medical services through the internet and by consumer-targeted businesses. The multi-disciplinary group of experts will look at patients' experience of services including DNA...
16 March 2009 - by Dr Rebecca Robey 
Sergey Brin, co-founder of Google, has pledged millions of dollars to fund a new research project investigating genetic and environmental factors that contribute to the development of Parkinson's disease. Mr Brin will pay for 10,000 Parkinson's sufferers to have their genomes sequenced by the company 23andMe, a...
23 October 2006 - by Dr Laura Bell 
Results from the first human clinical trial of gene-based therapy for Parkinson's Disease (PD) show the treatment substantially alleviates the symptoms of the condition. The trial was carried out by the US based biotech company Neurologix Inc People with PD are affected by tremors, stiff muscles and...
14 August 2006 - by Dr Jess Buxton 
US researchers have identified a genetic risk factor that they say could account for three per cent of the cause of Parkinson's disease (PD). The team, based at the Mayo Clinic in Rochester, Minnesota, has shown that people who inherit a DNA change that increases production...
23 February 2006 - by BioNews 
Australian and US researchers have discovered that the gene responsible for 'maleness' could explain why men are 50 per cent more likely than women to develop Parkinson's disease (PD). The scientists, based at Prince Henry's Institute in Melbourne and the University of California in Los Angeles, have shown that SRY...
19 April 2004 - by BioNews 
The identification of a gene involved in a rare hereditary form of Parkinson's disease could lead to new treatments for this incurable brain disorder, UK scientists say. Families affected by a severe, inherited form of the illness have an altered version of a gene called PINK1 (PTEN-induced kinase 1), researchers...
HAVE YOUR SAY
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions


Syndicate this story - click here to enquire about using this story.