Cilia with Defective Radial Spokes: A Cause of Human Respiratory Disease

Jennifer M. Sturgess, Judy Chao, John Wong, Norman Aspin, J. A.Peter Turner

Research output: Contribution to journalArticle

Abstract

We studied the fine structure of respiratory-tract cilia in three siblings with chronic respiratory disease, comparing them with those from a patient with Kartagener's syndrome who had dynein-deficient cilia and with control patients who had chronic bronchitis or chronic sinusitis. Electron microscopy of the siblings revealed a new abnormality in the ciliary axoneme — namely, lack of the radial spokes. Their cilia showed an eccentric central pair of tubules but otherwise had a normal central sheath, outer-doublet microtubules, nexin links and dynein arms. The cilia were immotile. Mucociliary clearance was completely lacking in the three siblings and in the patient with Kartagener's syndrome, but was normal in their parents and unaffected siblings. Sperm from the male sibling showed identical structural abnormalities and were immotile. We consider the radialspoke defect to be the congenital anomaly responsible for dysfunction of the mucociliary clearance mechanism in these three patients and of the immotile sperm in one of the them. This defect is apparently another cause of the “immotilecilia syndrome.” (N Engl J Med 300:53–56, 1979) THE mucociliary transport mechanism is responsible for the clearance of inhaled particulate matter from the upper and lower respiratory tract. Dysfunction of this mechanism may result from defective cilia or from abnormal mucous secretion. A deficiency of the dynein arms of the microtubular doublets of cilia has recently been described as the basis of ciliary dysfunction in patients with Kartagener's syndrome (sinusitis, bronchiectasis and situs inversus).1,2 Eliasson et al.3 have suggested that the clinical consequences of that ultrastructural abnormality should be reclassified as the “immotile-cilia syndrome” since not all cases have been associated with situs inversus as originally described by.

Original languageEnglish (US)
Pages (from-to)53-56
Number of pages4
JournalNew England Journal of Medicine
Volume300
Issue number2
DOIs
StatePublished - Jan 11 1979

ASJC Scopus subject areas

  • Medicine(all)

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