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Yeast discovery gives insight into familial dysautonomia

FOR RELEASE: April 6, 2005 ITHACA, N.Y. -- A discovery in yeast that has important implications for finding a cure for a devastating disease of nerve cell failures -- called familial dysautonomia (FD) -- has been made by Cornell University researchers.

They have found a gene that is a major player in determining the structural and functional asymmetry of cells -- known in modern biological parlance as cell polarity. The gene, called Elp1, is critical in regulating cell polarity, such as directing growth to the tip of a cell so that a "daughter" cell can "bud" off to divide, says Ruth Collins, assistant professor of molecular medicine in the College of Veterinary Medicine at Cornell.

"This discovery is exciting because it not only gives researchers new insight into basic mechanisms of cell growth and differentiation, but also provides critical insight into the pathogenesis of FD, which may arise in large part from a lack of fully developed neurons [nerve cells]," Collins says.

Her discovery is described in a paper in the March 18 issue of Molecular Cell (Vol. 17, No. 6). The paper is available online at http://www.molecule.org/ .

FD, which is manifested soon after birth and usually results in a life span of less than 30 years, is known to be caused by a genetic defect in a protein that is the human counterpart to the Elp1 gene in yeast.

"Not only is polarity important for normal cell function, but loss of polarity is associated with disease states, such as cancer, where reversal of the molecular pathway that creates cell polarity is one of the early steps in the progression to uncontrolled proliferation," Collins says.

The goal of Collins and two of her graduate students was to study how yeast establishes cell polarity by directing new growth to an area of the cell membrane where a "bud" can begin to grow into a daughter cell. The researchers looked at cells that were defective in cell
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Contact: Susan S. Lang
SSL4@cornell.edu
607-255-3613
Cornell University News Service
6-Apr-2005


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