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Making Changes in the Parkin Gene to Activate the Protein Parkin

Study Rationale:
The protein Parkin prevents cell death by breaking down damaged mitochondria, cells' energy generators. Mutations in the Parkin gene -- genetic changes that render the protein unable to perform its function -- can lead to loss of neurons and contribute to Parkinson's disease (PD). We created cells with mutations that do just the opposite, making Parkin more active. While some of these activating mutations have beneficial effects, they also may have other, undesirable effects. We now aim to study effects of Parkin activation further and identify other activating mutations that do not have undesirable side effects.

We hypothesize that mutations in some parts of the Parkin gene will make Parkin more active in pre-clinical Parkinson's models.

Study Design:
We devised 31 new mutations that can potentially activate Parkin. We will introduce these mutations into the cells that make Parkin proteins. We will see which mutations activate Parkin and test the mutations to evaluate their ability to break down damaged mitochondria. Based on results, the four mutations that demonstrated an ability to break down mitochondria will be tested in human neural cell and tissue models to see if results can be replicated.

Impact on Diagnosis/Treatment of Parkinson's disease:
First, these studies will prove that Parkin's activation improves the process of breaking down damaged mitochondria. The results of these studies will improve our understanding of the effect of specific mutations on Parkin's activity. This can help guide the development of molecules that mimic the mutations for further testing. Such molecules could be used speed therapeutic development for Parkinson's.

Next Steps for Development:
Mutations that activate Parkin in human cells will be introduced into a pre-clinical model of Parkinson's disease for further testing.


  • Jean-François Trempe, PhD

    Montreal, Quebec Canada

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