Researchers discover protein mutation in Parkinson's disease

Posted: Wednesday, March 21, 2012 10:00 am | Updated: 11:25 pm, Tue Mar 20, 2012.

A recent discovery by Purdue researchers may open new doors in the treatment and detection of Parkinsons disease.

The three year project concluded with the discovery of the cause of a mutation in protein DJ-1, which is directly correlated with the development of Parkinsons.

This mutant protein has been known to exist in individuals with Parkinsons but the cause of the mutation, other than natural aging, has been unknown until now.

Professor of chemistry Fred Regnier said, within the substantia nigra structure in the brain, DJ-1 serves as a chaperone for another protein known as alpha-synuclein. When DJ-1 is mutated, it becomes a less effective chaperone for alpha-synuclein. This results in clumps of protein called Lewy bodies, causing alpha-synuclein to stop functioning.

This process, which causes Lewy bodies to build up, is referred to as oxidative stress. Too much oxidation can lead to oxidative stress diseases, which include Parkinsons.

Anytime oxidative stress becomes very large, cells die for all kinds of reasons, Regnier said. The oxidative stress becomes so large that you begin to damage proteins.

The discovery is not a cure for Parkinsons but it answers part of the question as to why some develop the disease and others do not. Symptoms for Parkinsons usually do not develop until Lewy body buildup has advanced, making early detection difficult. One of the only major indicators for the disease is heredity.

Chris Rochet, associate professor of medicinal chemistry and molecular pharmacology, said although nothing can be done to avert genetic predispositions to DJ-1 mutations, steps can be taken to reduce the risk of Parkinsons.

One approach is to alter the diet so that affected individuals ingest less of the material that needs to be converted by the defective enzyme, Rochet said. Similarly, it is hypothesized that diets rich in antioxidants may help alleviate PD risk.

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Researchers discover protein mutation in Parkinson's disease