April 08, 2014
Dr. Jin O-Uchi, MD, PhD

Dr. Jin O-Uchi, MD, PhD, was selected as a finalist of the Outstanding Early Career Investigator Award, at the American Heart Association (AHA) Basic Cardiovascular Sciences (BCVS) 2012 Scientific held on July 23-26, 2012 in New Orleans, Louisiana. This award is for the young scientist in the stage of early faculty career (within their first four years of initial faculty appointment) and three finalists are selected annually by BCVS. The presentation, for which Dr. O-Uchi was selected for this award, was entitled "Malignant hyperthermia mutation of RyR1 (Y522S) increases catecholamine-induced cardiac arrhythmia through mitochondrial injury." Dr. O-Uchi joined the Center for Translational Medicine as an Instructor on July 2011 and the work presented in the abstract was conducted under the guidance of Dr. Shey-Shing Sheu, Professor and Interim Director at the Center for Translational Medicine in Thomas Jefferson University

Malignant hyperthermia (MH) has been known as one of the life-threatening syndromes with a pharmacogenetic skeletal muscle disorders. Sudden cardiac deaths are frequently observed in these patients, but the detail cardiac phenotypes in MH have still not been clarified. Dr. Shey-Shing Sheu's group, including Dr. O-Uchi at the Center for Translational Medicine, identified the intracellular mechanisms underlying the generation of cardiac arrhythmia in MH. Dr. Shey-Shing Sheu was the first to prove that ryanodine receptor type 1 (RyR1) is functionally expressed in cardiac mitochondria. In this time, his group showed that the RyR1 mutation expressed at the cardiac mitochondria is the one of the mechanism of the sudden death in MH using transgenic knock-in mice model carrying RyR1 mutation found in human MH families.

This study is conducted by a team of investigators at the Center for Translational Medicine in Thomas Jefferson University with world-wide collaboration including University of Rochester (Rochester NY), University of Pennsylvania (Philadelphia PA), Baylor College of Medicine (Houston, TX), University G. D'Annunzio (Chieti, Italy) and Tallinn University of Technology (Tallinn, Estonia).

About Jefferson Medical College
Founded in 1824, Jefferson Medical College has awarded more than 27,000 medical degrees and has more living graduates than any other medical school in the nation. It offers both traditional medical education programs and innovative joint degree programs to its enrollment of approximately 1000 students each year.