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Funded Studies

Investigating signaling pathway dysfunction linked to LRRK2

Mutations in the gene LRRK2 are responsible for tens of thousands of cases of Parkinson’s disease, and are the most common genetic cause of this disease. At present we don’t understand what causes cells to die in the brains of people who have these mutations. This project aims to use cells and brain tissue from these patients to find out how the mutations alter the biology of LRRK2 with such disastrous results.

Project Description
We have isolated skin cells from 14 Parkinson’s disease patients who carry mutations in LRRK2. These cells contain the same genetic mutation that causes the brain cells of people with this inherited form of Parkinson’s to die. Because of this, we can use these cells to examine what mutations in LRRK2 are doing to change the cellular function of this protein. We will look at pathways in these cells that are changed because of the mutations in LRRK2, and compare them to skin cells taken from people without mutations in this gene. At the same time we will look at brain tissue from patients who died from LRRK2 Parkinson’s disease, to correlate what we observe in the living skin cells.

Relevance to Diagnosis/Treatment of Parkinson’s Disease:  
In addition to being the single most common genetic cause of Parkinson’s disease, recent research has shown that genetic variation in LRRK2 is also involved in the more common, sporadic form of the disease. Because of this, understanding the molecular basis of disease linked to LRRK2 has great relevance for the development of novel drug treatments for Parkinson’s disease.

Anticipated Outcome
Our aim by the end of this project is to have identified and validated signaling pathways that are disrupted by mutations in LRRK2, uncovering new potential targets for drug therapies that can then be tested using specific small molecule inhibitors.


  • Patrick A. Lewis, PhD

    London United Kingdom

  • Dario Alessi, PhD

    Dundee United Kingdom

  • Helene Plun-Favreau, PhD

    London United Kingdom

  • Tamas Revesz, MD

    London United Kingdom

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