ELMO2 is an essential regulator of carotid artery development

Athira Suresh, Kai Kruse, Hendrik Arf, Rodrigo Diéguez-Hurtado () and Ralf H. Adams ()
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Athira Suresh: Department of Tissue Morphogenesis
Kai Kruse: Bioinformatics Service Unit
Hendrik Arf: Department of Tissue Morphogenesis
Rodrigo Diéguez-Hurtado: Department of Tissue Morphogenesis
Ralf H. Adams: Department of Tissue Morphogenesis

Nature Communications, 2025, vol. 16, issue 1, 1-20

Abstract: Abstract Engulfment and cell motility 2 (ELMO2) is a cytoskeletal adaptor protein necessary for cell migration and apoptotic cell removal. Loss-of-function mutations in ELMO2 cause intraosseous vascular malformation (VMOS), a human disease involving progressive expansion of craniofacial bones in combination with anomalies in blood vessels that emerge from the external carotid artery, as well as aneurysms in the internal carotid artery. Here we show that global inactivation of Elmo2 in mice leads to midgestation embryonic lethality due to dilation of the 3rd pharyngeal arch arteries and aneurysm formation in the common carotids. These vascular malformations are associated to defects in vascular smooth muscle cell organization and are phenocopied upon neural crest-specific deletion. In vitro experiments further confirm that ELMO2 regulates vascular smooth muscle cell adhesion, spreading and contractility through Rac1 activation and modulation of actin dynamics. Our findings provide new insights into the biological function of ELMO2 with relevant implications for understanding VMOS pathogenesis and raise the possibility of vessel-targeted diagnostic and treatment strategies.

Date: 2025
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DOI: 10.1038/s41467-025-60105-9

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