FAU Professor Receives a $433,500 Grant from the NIH to Continue Investigation of Rare and Life-threatening Restrictive Cardiomyopathy
Mar 6, 2012 - 10:56:22 AM

Researchers Have Already Uncovered Clues of How “Normal” Becomes “Abnormal”
in the Diseased Heart to Prevent the Disease and Develop Effective Treatments

( - BOCA RATON, FL (March 6, 2012) — For more than 10 years, Dr. Xupei Huang, M.D., Ph.D. and his collaborators have painstakingly been investigating the mechanisms of restrictive cardiomyopathy in the laboratory. The investigation provides important clues on how a “normal” heart becomes an “abnormal” one in the diseased mouse models, as well as how to prevent this rare, life-threatening condition, and develop optimal personalized treatments. Restrictive cardiomyopathy is a disorder of the heart muscle in which the walls of the ventricles become stiff, and therefore resist normal filling of blood. Currently, there is no cure and few treatments are known to be effective. Some individuals with severe cases of the disease may require heart transplants. Huang, associate professor of biomedical science in FAU’s Charles E. Schmidt College of Medicine, recently received $433,500 from the National Institutes of Health (NIH) to further his project titled “Restrictive Cardiomyopathy Caused by Cardiac Troponin Mutations”.
Up until six or seven years ago, the cause of restrictive cardiomyopathy was unknown or “idiopathic.” Today, using gene sequencing, researchers know that some of the diseases are caused by a genetic defect, which is passed on from one generation to another. Using a unique rodent model, Huang and his colleagues have been able to create this mutation in the laboratory to help them understand the mechanisms of the mutation, why the mutation happens and how the mutation causes the disease.
“Our research has confirmed that one mutation in a single gene can cause restrictive cardiomyopathy in our mouse models,” said Huang. “We have also discovered the mechanism of the disease and we are currently looking at ways to interrupt this defect and develop more effective treatments.”
Among the key findings of their research, they have uncovered that in restrictive cardiomyopathy the calcium doesn’t bind or properly drop off in the cardiac muscles and the muscle fibers have a hypersensitivity to the calcium. Therefore, traditional drug therapies such as calcium blockers don’t work in restrictive cardiomyopathy and Huang is hoping to develop drugs that will reduce the calcium sensitivity and accelerate the calcium drop off from the protein in these diseased hearts.

“Dr. Huang is a highly-accomplished physician-scientist who has established a one-of-kind transgenic mouse model in his laboratory, which provides the best method to truly understand the mechanism of this disease in order to find a cure,” said Dr. David J. Bjorkman, M.D., M.S.P.H., dean of FAU’s Charles E. Schmidt College of Medicine.
According to the American Heart Association, cardiovascular disease (CVD) is the number one killer in the U.S., claiming nearly 2,400 lives each day, an average of one death every 37 seconds. CVD claims about as many lives each year as cancer, chronic lower respiratory diseases, accidents and diabetes mellitus combined.
For more than five years, Huang has received substantial grant research funding from the NIH and the American Heart Association (AHA), has published nearly 30 research papers in peer-reviewed journals and has successfully trained five Ph.D. students, four master’s students and a dozen medical students performing basic research in the Huang laboratory under an AHA training program. Because of these achievements, he was selected to serve as a member in an NIH grant review study and in the AHA grant review panels.
This project was supported by the National Center for Research Resources and the National Heart, Lung and Blood Institute of the National Institutes of Health through grant number 1R15HL112130-01.

About Florida Atlantic University:

Florida Atlantic University, established in 1961, officially opened its doors in 1964 as the fifth public university in Florida. Today, the University serves more than 29,000 undergraduate and graduate students on seven campuses and sites. FAU’s world-class teaching and research faculty serves students through 10 colleges: the Dorothy F. Schmidt College of Arts and Letters, the College of Business, the College for Design and Social Inquiry, the College of Education, the College of Engineering and Computer Science, the Graduate College, the Harriet L. Wilkes Honors College, the Charles E. Schmidt College of Medicine, the Christine E. Lynn College of Nursing and the Charles E. Schmidt College of Science. FAU is ranked as a High Research Activity institution by the Carnegie Foundation for the Advancement of Teaching. For more information, visit


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