title: Genetic defects in ciliary structure and function.
abstract: Cilia, hair-like structures extending from the cell membrane, perform diverse biological functions. Primary (genetic) defects in the structure and function of sensory and motile cilia result in multiple ciliopathies. The most prominent genetic abnormality involving motile cilia (and the respiratory tract) is primary ciliary dyskinesia (PCD). PCD is a rare, usually autosomal recessive, genetically heterogeneous disorder characterized by sino-pulmonary disease, laterality defects, and male infertility. Ciliary ultrastructural defects are identified in approximately 90% of PCD patients and involve the outer dynein arms, inner dynein arms, or both. Diagnosing PCD is challenging and requires a compatible clinical phenotype together with tests such as ciliary ultrastructural analysis, immunofluorescent staining, ciliary beat assessment, and/or nasal nitric oxide measurements. Recent mutational analysis demonstrated that 38% of PCD patients carry mutations of the dynein genes DNAI1 and DNAH5. Increased understanding of the pathogenesis will aid in better diagnosis and treatment of PCD.
authors.affiliation: Department of Medicine, Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina 27599, USA. zariwala@med.unc.edu
authors.forename: Maimoona A
authors.initials: MA
authors.lastname: Zariwala
authors.forename: Michael R
authors.initials: MR
authors.lastname: Knowles
authors.forename: Heymut
authors.initials: H
authors.lastname: Omran
mesh_terms: D000818:Animals; D002923:Cilia / Q000235:genetics* / Q000502:physiology* / Q000648:ultrastructure; D002925:Ciliary Motility Disorders / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D004247:DNA / Q000235:genetics; D004398:Dyneins / Q000737:chemistry / Q000235:genetics / Q000648:ultrastructure; D005407:Flagella / Q000502:physiology / Q000648:ultrastructure; D006801:Humans
chemical_list: D004247:DNA; D004398:Dyneins