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Funded Studies

Characterization of Leukocytes as Biomarkers for LRRK2 and Autophagy in Parkinson's Disease

Study Rationale:

To avoid accumulation of products that may cause toxicity, neurons rely on a series of highly efficient mechanisms of quality control. It has been proposed that, in those with Parkinson's disease (PD), some of these mechanisms may not function properly, leading to increased cellular toxicity and contributing to cellular malfunctions in the brain. However, assessing the magnitude of these defects in the brains of those with PD is currently not possible. The goal of this study is to develop assays (tests) that accurately reflect the levels of alterations in the surveillance mechanisms that occur in the brain.


We propose that, by assessing the function of quality control mechanism in cells isolated from blood, we should be able to evaluate the degree to which these processes are altered in the brains of those PD.

Study Design:

We have optimized tools to measure the activity of crucial mechanisms of quality control in cells isolated from blood. We will obtain cells from healthy individuals and those with PD and use these tools to characterize functional differences in two specific quality control mechanisms whose dysfunction in neurons contribute to the progression of PD. We also plan to assess if changes in these mechanisms can be observed in response to drugs that have been designed to target proteins that regulate them.

Impact on Diagnosis/Treatment of Parkinson's disease:

Characterizing efficient approaches to measure the degree of functional alteration of mechanisms that account for pathology in neurons of those with PD should lead to a more comprehensive and personalized diagnosis with increased prognostic value. In addition, this research may also help evaluate the outcomes of new therapeutic approaches that may be used for the treatment of PD.

Next Steps for Development:

Development of standardized tools that can be used in the clinic may allow for their regular use in the diagnosis of PD. Furthermore, establishing detailed correlations between parameters assessed by these tools and the symptoms and response to treatment will expand their prognostic value in the evaluation of efficacy of new drugs.


  • Fernando Macian, PhD/MD

    Bronx, NY United States

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