LONDON (Reuters) - Three teams of researchers have identified a genetic mutation that occurs in about 5% of familial cases of Parkinson’s disease.
“Our results suggest that the mutation we have studied is the most common cause of Parkinson’s disease identified to date,” said Dr Tatiana Foroud, an associate professor at Indiana University School of Medicine in Indianapolis.
The mutation, a glycine-serine amino acid substitution at codon 2019 in the recently discovered LRRK2 (leucine-rich repeat kinase 2) gene on chromosome 12, could lead to improved diagnosis and the development of a genetic test.
Three groups -- in Britain, the Netherlands and the United States -- identified the LRRK2 gene mutation. Their findings are published online January 18th by The Lancet.
Dr. Foroud and her colleagues pinpointed the defect by analyzing the genetic background of 767 Parkinson’s disease patients from 358 different families.
Meanwhile, Dr. Nicholas Wood, of the National Hospital for Neurology and Neurosurgery in London, and his team focused on patients without a family history of the illness. They found the mutation was also implicated in sporadic cases.
At Erasmus Medical Center in Rotterdam in the Netherlands, Dr. Vincenzo Bonifati of studied 61 families with two or more members with Parkinson’s disease.
“We found there is a novel mutation which is common in these families,” Bonifati said in an interview. “The other groups in the UK and the US found the same mutation independently.”
“It is very important for scientists to establish novel (therapeutic) approaches based on the function of this gene,” said Bonifati.
“The main challenge is now to try and understand how this and other Parkinson disease-associated LRRK2 mutations lead to neurodegenerative disease, in order to design novel therapeutic and preventive strategies,” he added.
Lancet, online January 18, 2005.
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