Abstract 1515 Investigating the Role of Lipid Metabolism in Induced Pluripotent Stem Cells with High-Level Mitochondrial DNA Mutation Heteroplasmy

Deleterious mitochondrial DNA (mtDNA) mutations are often implicated in severe genetic diseases as well as chronic disease and age-related loss of function. At low levels of heteroplasmy, mtDNA mutations are typically asymptomatic, but beyond a critical threshold of mutant load, oxidative phosphorylation becomes impaired, leading to mitochondrial and subsequent cell and tissue dysfunction. To study the phenotypic consequences of mtDNA mutation heteroplasmy in cells, our lab previously reprogrammed primary dermal fibroblasts with a very low level of the most common mtDNA deletion, Δ4977, to induced pluripotent stem cells (iPSCs).