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    Abnormal ciliary/flagellar beating in human pathology: Molecular and cellular bases of primary ciliary dyskinesia




    Serge Amselem

    Inserm UMRS 933, Hôpital Trousseau, UF de Génétique clinique et moléculaire, Paris


    Jeudi 18 janvier 2018 à 12h00


     invité par Aminata Touré


    Institut Cochin, 22 rue Méchain, 75014 Paris
    Salle de conférence Rosalind Franklin, 2e étage

    Cilia are evolutionarily conserved organelles that protrude from the surface of most eukaryotic cells. Their axoneme consists of nine peripheral microtubule doublets surrounding (‘‘9+2’’ pattern) or not (‘‘9+0’’ pattern) a central pair of microtubules. The 9+0 cilia, which act as antennae sensing the external environment, are immotile, except in the embryonic node, a structure involved in the early establishment of the left-right asymmetry. The axoneme of the “9+2” motile cilia is characterized by the presence of dynein arms that are multiprotein ATPase complexes attached to the peripheral doublets, which are essential for normal ciliary and flagellar movements. From a pathological viewpoint, there is an increasing number of developmental diseases involving cilia. Although rare, primary ciliary dyskinesia (PCD) is the most common ciliopathy. PCD is a respiratory disease classically transmitted as an autosomal recessive trait, due to impaired mucociliary clearance resulting from functional and ultrastructural abnormalities of respiratory cilia; nearly half of the patients displays a situs inversus, thereby defining the Kartagener syndrome, and several male patients are infertile. This complex phenotype, i.e. chronic airway infections, situs inversus and male infertility, is explained by a single event: a defect involving one of the numerous components common to the axonemes found in motile cilia from airway cells and the embryonic node, and in spermatozoan flagella. As predicted from the high complexity of ciliary/flagellar structure, there is ample room for genetic heterogeneity in PCD. Indeed, each of the several hundreds of proteins that constitute a cilium/flagellum could potentially cause the disease. We will present the studies performed in our laboratory on the molecular and cellular bases of PCD, with phenotype-genotype correlations including ultrastructural defects and ciliary beating patterns according to the molecular defect identified. The impact of these studies on the role of each mutated PCD gene in the proper building of ciliary/flagellar axonemes, as well as on molecular diagnostics of PCD and genetic counselling of affected families will also be discussed.


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