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Elizabeth H. Corder, PhD

Gene variation in the LRRK2 gene identifies a third of Parkinson’s Disease patients -- many more than the p.G2019S mutation.


While 2% of PD patients are known to carry a mutation in the LRRK2 gene called p.G2019S, fully a third have a specific genetic signature in LRRK2 unrelated to the mutation that is uncommon in the general population.

Researchers at the National Institute on Aging, University College London, and Matrix Genomics, Inc. have identified a concise genetic signature found among a third of Parkinson’s disease (PD) patients – but at very low frequency in the general population. The signature is found in the LRRK2 gene located on chromosome 12.

This study published in the Annals of Human Genetics
http://www3.interscience.wiley.com/journal/122399048/abstract
describes a combination of four gene variants found in a third of Parkinson’s cases, but infrequent in the population. Thus the presence or absence of this signature can be used as a genetic test for Parkinson’s disease. [Patent pending.]

Genetic testing using this approach is expected to identify a third of persons at very high risk. It will not identify other genetic factors or level of risk due to environmental exposures, such as pesticides, and lifestyle. Thus the absence of this risk signature does not guarantee low risk.

This finding helps us understand what causes PD and could lead to new and more effective avenues for prevention and treatment. The advance is expected to identify individuals at greatest risk for PD before symptoms arise, when therapies and lifestyle changes might be most effective in slowing disease progression.

In 1993, Dr. Corder the corresponding author on the paper was the lead author on the Science article that described how risk for Alzheimer’s disease multiplied according to the number of copies of the apolipoprotein E allele 4 inherited from parents. This finding has been replicated in hundreds of studies and remains the one established genetic risk factor for Alzheimer’s disease, and the prototype for investigating common gene variants for common disorders.

The LRRK2 text is available at the Matrix Genomics website: www.matrixgenomics.com.

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