Erik Schoenmakers, Federica Marelli, Helle F Jørgensen, W Edward Visser, Carla Moran, Stefan Groeneweg, Carolina Avalos, Sean J Jurgens, Nichola Figg, Alison Finigan, Neha Wali, Maura Agostini, Hannah Wardle-Jones, Greta Lyons, Rosemary Rusk, Deepa Gopalan, Philip Twiss, Jacob J Visser, Martin Goddard, Samer A M Nashef, Robin Heijmen, Paul Clift, Sanjay Sinha, James P Pirruccello, Patrick T Ellinor, Elisabeth M Busch-Nentwich, Ramiro Ramirez-Solis, Michael P Murphy, Luca Persani, Martin Bennett, Krishna Chatterjee
Aortic aneurysms, which may dissect or rupture acutely and be lethal, can be a part of multisystem disorders that have a heritable basis. We report four patients with deficiency of selenocysteine-containing proteins due to selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2) mutations who show early-onset, progressive, aneurysmal dilatation of the ascending aorta due to cystic medial necrosis. Zebrafish and male mice with global or vascular smooth muscle cell (VSMC)-targeted disruption of Secisbp2 respectively show similar aortopathy...
December 2, 2023: Nature Communications