Press Release

FSU Researchers Help Discover New Genetic Variants That Cause Heart Disease in Infants

FOR IMMEDIATE RELEASE
 
CONTACT:
Bill Wellock, University Communications
(850) 645-1504; wwellock@fsu.edu
 
@FSUResearch
 
March 2020
 
TALLAHASSEE, Fla. — Florida State University researchers working in an international collaboration have identified new genetic variants that cause heart disease in infants, and their research has led to novel insights into the role of a protein that affects how the heart pumps blood. It is a discovery that could lead to new treatments for people suffering from heart disease.
 
In two separate papers, Jose Pinto, an associate professor in the College of Medicine, and P. Bryant Chase, a professor in the Department of Biological Science, worked with doctoral students Jamie Johnston and Maicon Landim-Vieira to explore a disease that caused the heart to pump with too little force. Their work was published in the Journal of Biological Chemistry and in Frontiers in Physiology.
 
The researchers discovered new interactions within parts of a protein called troponin. Troponin has three parts — troponin C, troponin I and troponin T — that work together to regulate the heart’s pumping of blood. The FSU researchers uncovered interactions of troponin C with portions of troponin T that can decrease the force of the heartbeat, something scientists had not previously noticed. 
 
“All of these proteins, they work like an orchestra,” Pinto said. “What is the main thing for an orchestra? To be in harmony, in balance. You need to have a good balance and you need to be in harmony, otherwise you will not produce good music. If one of these proteins is not in sync with the other proteins, you will not have your orchestra in harmony or balanced well, and then that will lead to the disease.”
 
Most previous work had focused on interactions between troponin C and troponin I, or between troponin T and another protein called tropomyosin. The new interaction between troponin C and troponin T is “an interaction that will modulate how much force the heart generates in each heartbeat,” Pinto said. “If you increase the number of these interactions, most likely you decrease contraction of the heart, and if you prevent these interactions, very likely you increase the force of contraction in each heartbeat.”
 
But science sometimes leads to more questions than answers. A related study by the same FSU researchers reported a new combination of genetic variants in a different part of troponin C that also caused heart disease in infants. Rather than uncovering new interactions among the parts of troponin, this study led researchers to conclude that there must be an unknown role for troponin, possibly in the cell nucleus, Chase said.
 
In that research, DNA sequencing showed that a mother and a father had different variants that both affected the troponin C protein. Although their cell function was altered in such a way that researchers expected them to have heart problems, they did not show signs of heart disease. Their children, however, had both variants, and though their cell functioning appeared to be more normal, they developed deadly heart disease.
 
“Some experiments provide a lot of immediate insight, but other times we find out that we just don’t understand everything that we think we do,” Chase said. “As much as we’ve learned, as much as we do understand, there’s a lot more that’s unknown. And it’s those times that can eventually lead to brand new, unexpected insights.”
 
Understanding the interactions between the parts of the troponin protein and also troponin’s various roles in heart cells will help guide new treatments for heart disease, both for the disease caused by the specific genetic variants the researchers discovered and for heart disease in general.
 
“These diseases are caused by seemingly small changes in the DNA,” Chase said. “There are genetic technologies to reverse that, to introduce the common DNA sequence, but applications of genetic technologies to human disease are in their infancy and there’s not a surefire and ethical way to apply changes in the genome to all the heart patients who could benefit from it. I’m sure there will be ways to correct genetic variants for a number of diseases, but the medical community is only just beginning to find out how to do that safely for people.”
 
Researchers from the FSU Translational Science Laboratory, Federal University of Rio de Janeiro, Federal University of Minas Gerais, Tel Aviv Sourasky Medical Center, Tel Aviv University and Yale University contributed to this work. The research was supported by the American Heart Association and the National Institutes of Health.
 

 

Press Release

Let's Dance: FSU Researchers Investigate How Tango May Help Parkinson's Patients

FOR IMMEDIATE RELEASE
 
CONTACT:
Bill Wellock, University Communications
(850) 645-1504; wwellock@fsu.edu
 
@FSUResearch
 
March 2020
 
TALLAHASSEE, Fla. — Parkinson’s disease takes a lot from its victims.
 
Patients often notice its onset as a tremor in one of their hands. As it progresses, it can impair balance, change speech patterns, alter thinking and dramatically affect movement.
 
There is no cure, but there are ways to improve symptoms. Researchers from Florida State University suggest practicing the Argentine tango could provide useful relief.
 
In a study published in the Journal of the American Medical Directors Association, FSU researchers used gait analysis to measure the risk of falling for Parkinson’s patients before and after Argentine tango dance lessons. The patients who took a series of 12 classes had a significant reduction in fall risk compared to a control group.
 
One of the main obstacles for Parkinson's patients is walking. They walk slower and with a shuffling gait, which increases their risk of falling. Because they cannot move as quickly, they are often unable to stop a fall with their hands and are at a significantly higher risk of injury than non-Parkinson’s patients.
 
“That is why fall prevention is key,” said Shani Peter, a third-year medical student and a member of the team that completed the project. “Argentine tango involves specific dance techniques that decrease fall risk and are generally not taught in other dances or activities. Our study further solidifies the potential Argentine tango has as a therapeutic and rehabilitative means for patients.”
 
Previous studies have shown that tango can be a helpful exercise for Parkinson’s patients, but this research added to that body of knowledge by using a gait analysis tool. Researchers rolled out a pressure-sensitive walkway called GAITRite that has thousands of sensors to monitor patients as they walk and calculates their risk of falling.
 
The specific techniques of Argentine tango help explain why it is so beneficial to Parkinson’s patients, said Peter, who was president of the Argentine Tango Club when she was an undergraduate at Florida State University. The dance emphasizes walking, balance, posture and weight shifting, all of which happens alongside a partner. For example, a forward step is broken into three parts: hip lift, knee lift and a forward lean that incorporates the chest. That shifts the dancer’s weight from the back of their body to the front.
 
Parkinson's patients have physical features such as a shuffling gait, stooped posture and slower movements, all of which contribute to the risk of falling. Argentine tango targets these features and focuses on walking mechanics, proper posture and balance techniques.
 
“To take a step in any direction may seem simple, but when you have Parkinson’s disease, the internal cue to take a step may dissipate,” Peter said. “As you learn how to dance Argentine tango, not only are you taught how to take a step by analyzing your body movements from head to toe, but you are provided external cues to do so.”
 
A College of Medicine Summer Research Fellowship helped the research team complete its project. Each year, FSU medical students can apply for the fellowships to work with College of Medicine faculty on original research. Recipients present their work at a poster session alongside other research from physicians.
 
“This is a perfect example of why we encourage our medical students to explore research opportunities,” College of Medicine Dean John P. Fogarty said. “It makes them better physicians, and it can make life better for their patients.”
 
The researchers are continuing their investigation. The intervention lasted for only a month, used a small group of patients who wanted to take tango lessons and included a control group that did not undergo any exercise regimen, which may have shown improvement on its own. A longer study incorporating core-strengthening exercises and a crossover between patient groups at six weeks is currently under way.
 
“Argentine tango involves unique techniques that address features that contribute to a Parkinson’s patient’s fall risk,” Peter said. “Our study reinforced the hypothesis that there is potential for physical rehabilitation in the dance. Accompanied by an enjoyable social environment and music, Argentine tango allows patients to dance the fall risk away.”
 
College of Medicine Professor Charles G. Maitland, Department of Scientific Computing graduate student Nathan Crock, as well as Beau J. Billings, Richard Wu, Shane Sterling, Sonia Koul, William F. Taber, Karina Pique and Roei Golan, all with the FSU College of Medicine, contributed to this study.

 

News of the Week

Fleischer receives FSU funding

Charles Fleischer, assistant professor of family medicine and rural health, was selected for a $20,000 First-Year Assistant Professor Award from the FSU Council on Research and Creativity. The funds will support his summer 2020 project involving the practice of preventive medicine in rural Honduras. Fleischer's mentor for the project is George Rust, professor of behavioral sciences and social medicine.

 

2019 Annual Report

Our new annual report provides the latest snapshot of the College of Medicine. Which of our alumni are practicing in Florida. How our PA program is supplementing Florida’s workforce. Which faculty members made headlines. How the College of Medicine is responding to community needs. How our outreach and pipeline programs diversify our student body. How our research growth continues to accelerate. Which donors made an impact in 2019. When it comes to the College of Medicine, the annual report is your mini-encyclopedia.

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