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2014 Biomarkers Across Neurodegenerative Diseases Grant (BAND)

Genetics, biomarkers and Mendelian Randomization to identify common pathway

Carlos Cruchaga, Ph.D.
Washington University in St.Louis
St. Louis, MO - United States

Accumulating evidence suggests that Alzheimer’s and Parkinson’s disease may share some common links, including genetics and biological pathways. For example, certain variations in people’s genetic profiles have been linked to an increased risk of both Alzheimer’s and Parkinson’s. However, many genetic links between the two diseases may not have been detected yet.

A biomarker is something that can be measured to indicate the presence of disease in a specific person. Using samples of cerebrospinal fluid (the fluid that surrounds nerve cells in the brain and spinal cord), scientists are increasingly able to predict the presence of Alzheimer’s or Parkinson’s disease by measuring levels of three biomarker proteins: beta-amyloid, tau, and alpha-synuclein.

Carlos Cruchaga, Ph.D., and colleagues have proposed a series of studies to address these questions using a method called Mendelian randomization. This method uses information from existing databases, such as information about genetic variations, biomarker levels and the presence of disease. The researchers can use this method to mimic a study that controls for various factors and allows the team to compare disease rates in people with and without certain genetic differences.

Dr. Cruchaga and colleagues plan to use this method to identify new genes related to increased risk of both Alzheimer’s and Parkinson’s disease. They will also examine if changes in biomarker levels contribute to the development of Alzheimer’s and Parkinson’s disease, or are just byproducts of that process. These studies will shed new light on the relationships between Alzheimer’s and Parkinson’s, possibly suggesting novel ways to prevent or treat these brain diseases.

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