For more than two decades, mutations in a gene located in the DNA of mitochondria have been classified as a mitochondrial disease and linked to a particular set of symptoms. However, according to new findings from researchers at Children's Hospital of Philadelphia (CHOP), mutations in this gene, which encodes an essential part of the mitochondrial motor known as ATP synthase that generates cellular energy, are much more variable than previously thought.
New preclinical findings from extensive cell and animal studies suggest that a drug already used for a rare kidney disease could benefit patients with some mitochondrial disorders—complex conditions with severe energy deficiency for which no proven effective treatments exist. Future clinical research is needed to explore whether the drug, cysteamine bitartrate, will meaningfully benefit patients.
Synapses were firing throughout the conference room in the Colket Translational Research Building as attendees at the 2017 Research Institute Scientific Symposium held May 2 learned about their colleagues' intriguing research endeavors. The four sessions' themes aligned smartly with the Research Institute's strategic planning process and overall mission of the Children's Hospital of Philadelphia.