- White, Kevin;
- Lu, Yu;
- Annis, Sofia;
- Hale, Andrew E;
- Chau, B Nelson;
- Dahlman, James E;
- Hemann, Craig;
- Opotowsky, Alexander R;
- Vargas, Sara O;
- Rosas, Ivan;
- Perrella, Mark A;
- Osorio, Juan C;
- Haley, Kathleen J;
- Graham, Brian B;
- Kumar, Rahul;
- Saggar, Rajan;
- Saggar, Rajeev;
- Wallace, W Dean;
- Ross, David J;
- Khan, Omar F;
- Bader, Andrew;
- Gochuico, Bernadette R;
- Matar, Majed;
- Polach, Kevin;
- Johannessen, Nicolai M;
- Prosser, Haydn M;
- Anderson, Daniel G;
- Langer, Robert;
- Zweier, Jay L;
- Bindoff, Laurence A;
- Systrom, David;
- Waxman, Aaron B;
- Jin, Richard C;
- Chan, Stephen Y
Iron-sulfur (Fe-S) clusters are essential for mitochondrial metabolism, but their regulation in pulmonary hypertension (PH) remains enigmatic. We demonstrate that alterations of the miR-210-ISCU1/2 axis cause Fe-S deficiencies in vivo and promote PH. In pulmonary vascular cells and particularly endothelium, hypoxic induction of miR-210 and repression of the miR-210 targets ISCU1/2 down-regulated Fe-S levels. In mouse and human vascular and endothelial tissue affected by PH, miR-210 was elevated accompanied by decreased ISCU1/2 and Fe-S integrity. In mice, miR-210 repressed ISCU1/2 and promoted PH. Mice deficient in miR-210, via genetic/pharmacologic means or via an endothelial-specific manner, displayed increased ISCU1/2 and were resistant to Fe-S-dependent pathophenotypes and PH. Similar to hypoxia or miR-210 overexpression, ISCU1/2 knockdown also promoted PH. Finally, cardiopulmonary exercise testing of a woman with homozygous ISCU mutations revealed exercise-induced pulmonary vascular dysfunction. Thus, driven by acquired (hypoxia) or genetic causes, the miR-210-ISCU1/2 regulatory axis is a pathogenic lynchpin causing Fe-S deficiency and PH. These findings carry broad translational implications for defining the metabolic origins of PH and potentially other metabolic diseases sharing similar underpinnings.