Auburn University College of Veterinary Medicine faculty has received a two-year $470,000 grant to conduct research to study neuropathology associated with mitochondrial disease.
Dr. Carl A. Pinkert and Dr. Michael H. Irwin, faculty in the Department of Pathobiology, and their team received the first year of funding for a two-year $470,000 grant from the Foundation for a Cure for Mitochondrial Disease (MitoCure Foundation). The duo has been continuously funded by the MitoCure Foundation for their pioneering research since 2009.
Their work, in collaboration with Dr. Kosta Steliou at the Boston University School of Medicine and PhenoMatriX, a privately held firm, targets therapeutic interventions in mitochondrial disease by use of synthetic antioxidant compounds.
Dr. Pinkert says that the research currently being conducted at Auburn’s College of Veterinary Medicine is geared toward development of animal models of human disease and therapeutic strategies that can be used to treat human mitochondrial disorders.
Recent findings by the Auburn team illustrated the effects of a novel group of hybrid antioxidant compounds in animal models of aging, Parkinson’s disease and mitochondrial dysfunction.
“These results encourage the validation and refinement of these synthetic antioxidant compounds,” Dr. Irwin said. “The experiments outlined in our team’s proposal will provide critically-needed preclinical animal modeling data to bring therapeutic compounds closer to realization in treating human patients suffering from mitochondrial-related deficiencies, dementia and neuropathology.”
Mitochondrial disease is a rare and often misdiagnosed disorder. Mitochondria are responsible for creating more than 90 percent of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell, which causes injury or even death of the affected cells. If this process is repeated throughout the body, whole systems begin to break down, and the life of the afflicted person is severely compromised. Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection
Each year, more than 4,000 people in the United States are diagnosed with mitochondrial disease, many of them young children.
“There are a number of diseases that could be cured if we could somehow modify mitochondrial gene function,” Dr. Irwin added. Treatments that substantively improve the quality of life for patients with mitochondrial disease remain elusive and currently available medications have low efficacy, he said. “Although there is no cure for mitochondrial disease, development of medicinal compounds that can partially alleviate the damage, especially to neurons, caused by mitochondrial dysfunction should lead to better treatment outcomes.”