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Principal Investigator: Peter Rahl
Mentor: Dr. Ruth Collins
Contact Information: E-mail: rnc8@cornell.edu - Phone: 607-253-4123
Sponsor: American Heart Association-Northeast Affiliate - Predoctoral Fellowship
Grant Number: 0615699T
Title: ELP 1p, the Yeast Homolog of the Familial Dysautonomia Causing Gene, Negatively Regulates Polarized Secretion
Annual Direct Cost: $21,000
Project Period: 07/01/06-06/30/07
DESCRIPTION (provided by applicant): Familial Dysautonomia (FD) is a sensory and autonomic nervous system disease that has been found to be caused by mutations in the protein ELP1/KAP. Afflicted patients experience sudden drops in blood pressure. These hypotensive events become more severe once the patient becomes an adult and can have a major impact on their mobility. We are trying to understand the function of ELP1 at the cellular level.
Cells move material in and out of the cell in tiny vesicles. We have found a role for ELP1 in this process, also referred to as membrane trafficking. Currently, we are trying to understand at the molecular and cellular level how ELP1 functions in membrane trafficking. Revealing the function of this protein may help understand the molecular dysfunction in FD patients and may help understand how individuals are able to regulate blood pressure.
We are trying to identify the enzymatic activity or function of the protein ELP1, the protein that has been linked to cause Familial Dysautonomia when mutated. We have evidence that it may regulate the activity of another enzyme which functions to regulate vesicle transport in cells; how material moves in and out of the cell. I am using a combination of genetic and mutant analysis to understand the physiological relevance of ELP1's role in vesicle transport and also use assays to monitor particular enzyme activity in cells with and without ELP1.
Mutations in the protein ELP1 causes the neurodegenerative disease Familial Dysautonomia (FD). We are trying to understand the function of ELP1 in cells. Insights into ELP1 function in normal cells may help to understand the dysfunction in FD patients and may suggest possible treatment methods. One symptom of afflicted patients is sudden drops in blood pressure. Revealing the function of ELP1 may help understand how individuals are able to regulate blood pressure.
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