Mark Payne, professor of pediatrics and medical and molecular genetics at the Indiana University School of Medicine in Indianapolis, was awarded an MDA research grant totaling $298,048 over a period of two years to study ways to overcome the vulnerability of heart muscle in Friedreich’s ataxia (FA).

Heart muscle is especially vulnerable in FA, leading to the possibility of severe heart failure and early death. The reason, Payne says, appears to relate to how mitochondria, the cell’s energy producers, obtain their own cellular fuel. “It appears that the mitochondria in the heart, which normally produce energy for the heart to beat, are not capable of using certain fuels (fats and sugars) to make energy. The result is that the heart does not have enough energy to withstand stressful situations.”

Payne will study this phenomenon further in a mouse model of FA, to understand altered mitochondrial function in the heart that may contribute to the development of heart failure. “In particular, we will determine if the mitochondria are capable of using fats and sugars from the diet in an appropriate manner to make energy,” he says, using a variety of advanced molecular biology and imaging techniques. He also will study whether supplying a good copy of the mutated gene responsible for the disease can reverse the faulty metabolism of the heart.

“The goal of this project is to understand the basic mechanisms of heart failure in this disease, and then develop approaches to improve heart function and save lives,” Payne says.

Funding for this MDA grant began Feb. 1, 2013.