Lysosomal dysfunction and inflammatory sterol metabolism in pulmonary arterial hypertension

Science. 2025 Jan 24;387(6732):eadn7277. doi: 10.1126/science.adn7277. Epub 2025 Jan 24.

Abstract

Vascular inflammation regulates endothelial pathophenotypes, particularly in pulmonary arterial hypertension (PAH). Dysregulated lysosomal activity and cholesterol metabolism activate pathogenic inflammation, but their relevance to PAH is unclear. Nuclear receptor coactivator 7 (NCOA7) deficiency in endothelium produced an oxysterol and bile acid signature through lysosomal dysregulation, promoting endothelial pathophenotypes. This oxysterol signature overlapped with a plasma metabolite signature associated with human PAH mortality. Mice deficient for endothelial Ncoa7 or exposed to an inflammatory bile acid developed worsened PAH. Genetic predisposition to NCOA7 deficiency was driven by single-nucleotide polymorphism rs11154337, which alters endothelial immunoactivation and is associated with human PAH mortality. An NCOA7-activating agent reversed endothelial immunoactivation and rodent PAH. Thus, we established a genetic and metabolic paradigm that links lysosomal biology and oxysterol processes to endothelial inflammation and PAH.

MeSH terms

  • Animals
  • Bile Acids and Salts* / metabolism
  • Cholesterol / blood
  • Cholesterol / metabolism
  • Endothelial Cells / metabolism
  • Endothelium, Vascular / metabolism
  • Genetic Predisposition to Disease
  • Humans
  • Inflammation
  • Lysosomes* / metabolism
  • Male
  • Mice
  • Nuclear Receptor Coactivators / genetics
  • Nuclear Receptor Coactivators / metabolism
  • Oxysterols* / metabolism
  • Polymorphism, Single Nucleotide
  • Pulmonary Arterial Hypertension* / genetics
  • Pulmonary Arterial Hypertension* / metabolism

Substances

  • Oxysterols
  • Bile Acids and Salts
  • Nuclear Receptor Coactivators
  • Cholesterol