Abstract 2857 A novel pathogenic mutation of PPTC7 results in metabolic and mitophagy defects characteristic of mitochondrial disease

Mitochondria are essential facilitators of metabolism, including energy expenditure and nutrient selection. Mitochondrial disorders are characterized by a dysregulation of the tightly regulated homeostasis of mitochondrial function. While the prevalence of generalized mitochondrial diseases is common, mitochondrial diseases associated with mitochondrial DNA (mtDNA) depletion are rare and often undiagnosed. The mitochondrial phosphatase PPTC7 is canonically known for its localization to the mitochondrial matrix, where it plays a role in maintaining mitochondrial content and function by dephosphorylating mitochondrial substrates.