Researchers at Washington University School of Medicine in St. Louis have identified the function of a mitochondrial protein that plays a role in human disease. The research, led by BJC Investigator Dave Pagliarini, PhD, the Hugo F. and Ina C. Urbauer Professor, could provide new ways to diagnose and develop treatments for some rare mitochondrial diseases. The study is published in the journal Nature Metabolism.
Mitochondrial diseases affect cells’ ability to produce energy to support organ function. The research, led by graduate student Andrew Sung, found how a mitochondrial protein interacts with and assembles a group of proteins to form a complex involved in energy generation. The researchers scanned the mitochondrial protein for areas that are more sensitive to genetic variation and, therefore, more likely to play an important role in the protein’s function.
Diagnosing the genetic conditions, which affect one in 5,000 people, is challenging when some, but not all, mutations cause disease. Pagliarini’s work with Robert Taylor, a professor of mitochondrial pathology at Newcastle University, involved an analysis to help reveal the relevance of possible disease-related mutations in the mitochondrial protein, identified in mitochondrial diagnostic laboratories across the world. The team also characterized more than 5,000 additional mutations in the protein that potentially affect its function, paving the way to shape a clinical diagnostic tool for identifying disease-causing genetic variation.