Congratulations to Dr. Brett Kaufman who was recently awarded a new NIH-NICHD R21. Dr. Kaufman has been awarded annual direct costs of over $125,000 for his grant titled, “Developing intrabody therapeutics for mitochondrial DNA heteroplasmy.” This proposal was submitted in response to the competitive funding opportunity titled NIH Exploratory/Developmental Research Grant Program (Parent R21) under funding opportunity number PA-20-195.
Mitochondrial genome (mtDNA) mutations cause a range of disorders that frequently manifest in early childhood to cause a life-long care burden with high mortality. For patients affected by a mtDNA mutation, there is no effective therapy or cure. We propose to identify antibodies from a library that recognize a unique structure formed exclusively in one specific mtDNA mutation and direct that protein to the mitochondria to selectively inhibit replication of mutant mtDNA, allowing normal mtDNA levels to increase. Because a subtle increase in the ratio of normal to mutant mtDNA can have significant clinical benefits, our proposed approach not only promises to provide a valuable method for studying mtDNA biology but also has great potential for translation into patient treatments.