Funding outcome

Heart failure presents as the leading cause of infant death in indiviudals with Barth Syndrome, a rare genetic disorder first described by Peter Barth and colleagues in 1983. Fortunately, with current medical strategies, individuals with Barth Syndrome now have a greater likelihood of surviving past infancy, however heart disease remains a constant clinical concern throughout their lifespan. Recently, it has been discovered that the heart of an individual with Barth Syndrome may not be able to produce energy as efficiently as a healthy heart. Because of this malfunction in energy production, the heart is compromised in its ability to effectively pump blood through the rest of the body, thus leading to heart failure. The goal of our research is to determine whether correcting the heart's ability to produce energy may be an effective therapy to prevent the development of heart disease in Barth Syndrome children. Our preliminary data has suggested that the Barth Syndrome heart may have a defect in its ability to effectively burn sugar for energy. Recently, a genetically modified mouse model has been developed with the same genetic mutation that causes Barth syndrome, and these mice also develop heart failure mimicking the human condition. We will treat these mice with drugs that increase sugar (dichloroacetate) metabolism in the heart, and assess whether dichloroacetate improves heart function and prevents heart failure due to Barth Syndrome. If our hypothesis is correct, our research will suggest that increasing the heart's ability to burn sugar for energy may be an exciting approach to prevent heart failure in Barth Syndrome children.