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Principal Investigator: Pooneh Bagher
Mentor: Dr. Teresa Gunn
Contact Information: E-mail: tmg25@cornell.edu - Phone: : 607-253-4359
Sponsor: American Heart Association-Northeast Affiliate - Predoctoral Fellowship
Grant Number: 0615695T
Title: The Role of Mahogunin Proteins in Cardiac Development
Annual Direct Cost: $21,000
Project Period: 07/01/06-06/30/08
DESCRIPTION (provided by applicant): Congenital heart defects are the leading cause of birth defect-related deaths. We are interested in understanding how the heart develops and the genes involved.
Although most animals appear symmetrical with respect to left and right from the outside, the internal organs (including the heart) show differences between the two sides. The left-right body axis is set up early in development and if it is done incorrectly, this often leads to congenital heart defects. We study mice with a mutation in a gene called Mahogunin Ring Finger 1, which has a role in determining which side is left and which is right. Almost half of these mice die before birth. We hypothesize that they die because they have congenital heart defects. I will study their hearts to look for defects and I will examine the expression of genes that are known to be involved in heart development to see if they are expressed normally in our mutant mice. In addition, sequencing of the genome has revealed that there is another gene that makes a protein very similar to Mahogunin Ring Finger 1; it is called Mahogunin Ring Finger 2. I will generate and examine mice with a mutation in this gene to study whether it also has a role in embryonic patterning and heart development.
Congenital heart defects are the most common birth defect and a leading cause of infant mortality. Understanding the genetic and molecular pathways involved in normal heart development is essential to being able to identify the cause(s) of these defects and for the development of screening methods and preventative therapies.
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