ARMC2 loss impairs cilia structure and leads to primary ciliary dyskinesia symptoms in mouse organs
Year: 2026
Type: article
Abstract: In humans and mice, deficiency in ARMC2 causes Multiple Morphological Abnormalities of the Flagellum (MMAF), a condition defined by absent or aberrant sperm flagella with a disorganized axoneme. Affected men are infertile but with no other obvious signs characteristics/typical for primary cilia dyskinesia (PCD). Given the similarity between cilia and flagella axonemes we investigated a possible role of ARMC2 in cilia functioning. In Armc2 -deficient mice, the length of cilia was reduced in trachea and oviduct. Ciliary beating was also affected, leading to tracheal mucus accumulation and female mutants had fewer pups, likely due to impaired oviductal transport. Additional PCD manifestations included enlarged brain ventricles and occasional severe hydrocephalus, and situs ambiguus were also observed. Altogether, these findings suggest that mutations of ARMC2 might be also a molecular cause of human PCD.
Authors: Elsa Giordani, Solène Houdeline, Magali Court, Sylvie Gory-Fauré, Jean-Christophe Deloulme, Anne-Pascale Bouin, Fabrice Senger, Charles Coutton, Edgar Del Llano, Anne-Laure Barbotin, Angèle Boursier, Geneviève Chevalier, Anne Bertrand, Christophe Bosc, Jessica Escoffier, Pierre F. Ray, Guillaume Martinez, Christophe Arnoult, Corinne Loeuillet
Institutions: Centre National de la Recherche Scientifique, Inserm, Institut pour l'avancée des biosciences, Université Grenoble Alpes, Grenoble Institute of Neurosciences, Centre Hospitalier Universitaire de Grenoble, Université de Lille, Centre Hospitalier Universitaire de Lille, Lille Neurosciences & Cognition
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,801
OpenAlex ID: W7162413787