Katelynn A Toomer, Mengyao Yu, Diana Fulmer, Lilong Guo, Kelsey S Moore, Reece Moore, Ka'la D Drayton, Janiece Glover, Neal Peterson, Sandra Ramos-Ortiz, Alex Drohan, Breiona J Catching, Rebecca Stairley, Andy Wessels, Joshua H Lipschutz, Francesca N Delling, Xavier Jeunemaitre, Christian Dina, Ryan L Collins, Harrison Brand, Michael E Talkowski, Federica Del Monte, Rupak Mukherjee, Alexander Awgulewitsch, Simon Body, Gary Hardiman, E Starr Hazard, Willian A da Silveira, Baolin Wang, Maire Leyne, Ronen Durst, Roger R Markwald, Solena Le Scouarnec, Albert Hagege, Thierry Le Tourneau, Peter Kohl, Eva A Rog-Zielinska, Patrick T Ellinor, Robert A Levine, David J Milan, Jean-Jacques Schott, Nabila Bouatia-Naji, Susan A Slaugenhaupt, Russell A Norris
Mitral valve prolapse (MVP) affects 1 in 40 people and is the most common indication for mitral valve surgery. MVP can cause arrhythmias, heart failure, and sudden cardiac death, and to date, the causes of this disease are poorly understood. We now demonstrate that defects in primary cilia genes and their regulated pathways can cause MVP in familial and sporadic nonsyndromic MVP cases. Our expression studies and genetic ablation experiments confirmed a role for primary cilia in regulating ECM deposition during cardiac development...
May 22, 2019: Science Translational Medicine