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[Preprint]. 2024 Feb 2:2024.01.29.577829. [Version 2] doi: 10.1101/2024.01.29.577829

An endothelial SOX18-mevalonate pathway axis enables repurposing of statins for infantile hemangioma

Annegret Holm, Matthew S Graus, Jill Wylie-Sears, Luke Borgelt, Jerry Wei Heng Tan, Sana Nasim, Long Chung, Ashish Jain, Mingwei Sun, Liang Sun, Pascal Brouillard, Ramrada Lekwuttikarn, Harry Kozakewich, Jacob Yanfei Qi, Joyce C Teng, John B Mulliken, Miikka Vikkula, Mathias Francois, Joyce Bischoff
PMCID: PMC11257613  PMID: 39026886

ABSTRACT

Infantile hemangioma (IH) is the most common tumor in children and a paradigm for pathological vasculogenesis, angiogenesis and regression. Propranolol is the mainstay of treatment for IH. It inhibits hemangioma vessel formation via a β-adrenergic receptor independent off-target effect of its R(+) enantiomer on the endothelial specific transcription factor sex-determining region Y (SRY) box transcription factor 18 (SOX18). Transcriptomic profiling of patient-derived hemangioma stem cells uncovered the mevalonate pathway (MVP) as a target of R(+) propranolol. Loss of SOX18 function confirmed R(+) propranolol mode of action on the MVP. Functional validation in preclinical IH models revealed that statins - targeting the MVP - are potent inhibitors of hemangioma vessel formation. We propose a novel SOX18-MVP-axis as a central regulator of IH pathogenesis and suggest statin repurposing to treat IH. Our findings reveal novel pleiotropic effects of beta-blockers and statins acting on the SOX18-MVP axis to disable an endothelial specific program in IH, which may impact other scenarios involving pathological vasculogenesis and angiogenesis.

Graphical abstract

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