This work is to study the early metabolic signals responsible for tissue specific manifestation of mitochondrial diseases. Mitochondrial diseases affect more than 1:3000 individuals and are present with multisystemic genetic and clinical presentations including the nervous system, myopathy, and cardiomyopathy and affect one or several tissues. The project combines state-of-the-art molecular and genetic, molecular toolsets and model systems to understand disease pathophysiology. The project will provide important understanding of currently unknown molecular and metabolic knowledge and mechanisms of tissue-specificity in mitochondrial diseases provide potential approaches to targeted therapy.

2023

2027