Research: Dr. Johnson is working to define the molecular and cellular mechanisms underlying clinically relevant symptoms in mitochondrial disease, with the goal of understanding which cell types and processes are important for individual aspects of mitochondrial disorders. In particular, he is focused on the severe central nervous system and metabolic components seen in pediatric mitochondrial disease, such as seizures, brain lesions/degeneration, and mitochondrial disease metabolic disease. He is also studying the impact of mitochondrial-toxic compounds, and his laboratory is performing drug screening in cultured cell, nematode, and mouse models aimed at identifying better compounds and targets for clinical treatment of mitochondrial disease. Recent work in the Johnson laboratory has identified the immune system as a causal driver of disease in Leigh syndrome, revealing that immune-targeting drugs can prevent disease in an animal model of this form of mitochondrial disease. Ongoing work is focused on finding better targets and determining how broadly this finding applies to other forms of mitochondrial disease. See the Johnson Lab page for additional information.

Patient Care: Per Dr. Johnson, “this work will enable us to identify effective treatments for mitochondrial disease, move these therapies into clinical use, and improve the diagnosis of mitochondrial disorders.”