4-Hydroxybenzoic acid rescues multisystemic disease and perinatal lethality in a mouse model of mitochondrial disease

pathogenic variant induces cardiac insufficiency and neurodevelopmental delay in mice d Consequently, mice with Coq2 mutations exhibit perinatal lethality d 4HB stimulates mitochondrial metabolism in human cells and mice with COQ2 defects d 4HB rescues multisystemic disease and prevents perinatal lethality in the Coq2 A252V model