FOR IMMEDIATE RELEASE 

CONTACT: Kathleen Haughney, Florida State University, (850) 644-489, khaughney@fsu.edu 

Each day the average human heart beats 100,000 times and pumps about 2,000 gallons of blood. It’s a process that is critical to life, and yet it often goes awry for unknown reasons.

“Despite knowing a lot about muscle contraction and the heart in particular, there are still a number of questions scientists have about the underlying structures and how things can go wrong, causing disease,” said Bryant Chase, professor of Biological Science at Florida State University.

Chase and a team of FSU researchers have conducted a deep dive on a group of proteins and a mutation that often results in a type of heart disease called hypertrophic cardiomyopathy, a condition where the heart muscle thickens, making it difficult for the heart to pump blood. The hope is with greater understanding of the molecular underpinnings of this disease, scientists may find a path forward for treatment.

Their study, which focuses on the genetic variant of a protein called cardiac troponin C, is published in Chemical Science, a journal of the Royal Society of Chemistry. Chase and FSU Associate Professor of Biomedical Sciences Jose Pinto have been focused on the role that troponin C protein plays in hypertrophic cardiomyopathy for several years.

Cardiac troponin C is part of a group of related proteins that resides on filaments of striated muscle, such as the heart. It is responsible for binding calcium to activate muscle contraction — it could be thought of as an on-off switch for the heart.

The team concentrated on a genetic variant of cardiac troponin C because that variant seemed to be implicated in many cases of hypertrophic cardiomyopathy. They found that a seemingly small change in this molecule affects the protein structure so adversely that it triggers a series of problems.

“The presence of a pathogenic variant found in humans with hypertrophic cardiomyopathy in this region of cardiac troponin C disrupts the intricate network of chemical interactions within the protein. Thus, causing deleterious effects to other protein partners, negatively impacting the heart function,” Pinto said.

The team conducted their research on a variety of fronts, looking at the variant in mice models while also using several advanced spectroscopy techniques to examine cellular and molecular samples. This included nuclear magnetic resonance, a technique using magnetic fields to better observe molecular changes.

They also relied on the expertise of colleagues not only from FSU, but from across the globe.

In addition to Chase and Pinto, other FSU researchers on this project were Assistant Professor of Health and Human Sciences Michelle Parvatiyar, College of Medicine graduate students Maicom Landim-Viera, Jamie Johnston and Karissa Dieseldorff Jones; and College of Health and Human Sciences graduate student Isela Valera.

Other institutions contributing to this work were Federal University of Rio de Janeiro, Federal University of Minas Gerais, Eastern Virginia Medical School and Loyola University of Chicago.

This work was supported by the National Institutes of Health and the American Heart Association.  

FOR IMMEDIATE RELEASE
 
CONTACT: Kathleen Haughney, University Communications 
(850) 644-1489; khaughney@fsu.edu
 
@FSUResearch
 
June 2021
 
PRIDE MONTH: FSU PHYSICIAN SHEDS LIGHT ON LGBTQ HEALTH DISPARITIES
 
TALLAHASSEE, Fla. — Recent moves by the Biden administration to prohibit health care discrimination based on sexual orientation or gender identity were widely applauded by civil rights groups. But health officials are still fighting a battle when it comes to making sure all LGBTQ individuals receive adequate health care.
 
Dr. Jonathan Appelbaum, professor and chair of the Department of Clinical Sciences in the Florida State University College of Medicine, researches health disparities in the LGBTQ population. He also is the Laurie L. Dozier Jr., M.D, Education Director and a professor of internal medicine, as well as a practicing physician.
 
He has been quoted in the Tampa Bay Times discussing health disparities and transgender patients and in Verywell Health discussing a new injectable HIV treatment. 
 
“The discrimination, social stigma and denial of their civil rights that LGBTQ individuals face contribute to poorer health outcomes,” Appelbaum said. “Research shows us that they face a higher rate of bullying, suicide, substance use disorders and various cancers. These health outcomes don’t happen for biological reasons. A shortage of gender-affirming health care keeps people from accessing the services they need.”
 
For media interviews, Dr. Appelbaum can be reached at jonathan.appelbaum@med.fsu.edu.
 
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Photo: Dr. Jonathan Appelbaum, professor and chair of the Department of Clinical Sciences in the Florida State University College of Medicine. (Courtesy of Dr. Jonathan Appelbaum)