Findings from Department of Pediatrics in the Area of Protein S Deficiency Reported (Mitochondrial Bioenergetics and Cardiolipin Remodeling Abnormalities In Mitochondrial Trifunctional Protein Deficiency).

Researchers from the Department of Pediatrics in Pittsburgh, Pennsylvania, have studied mitochondrial trifunctional protein deficiency, an inherited metabolic disorder affecting fatty acid oxidation. They found that mutations in TFP subunits impact cardiolipin remodeling and mitochondrial bioenergetics in patient-derived cells. The study suggests that responses to potential drugs targeting cardiolipin metabolism may vary based on patient genotype. This research was funded by various organizations, including the National Institutes of Health. [Extracted from the article]