The Dyskinetic Cilia Syndrome: Ciliary Motility in Immotile Cilia Syndrome

doi:10.1378/chest.78.4.580

Chest

Volume 78, Issue 4, October 1980, Pages 580-582

https://doi.org/10.1378/chest.78.4.580 Get rights and content

Ciliary motility was studied in three patients with Kartagener syndrome who had previously been found to have absent nasal and pulmonary mucociliary transport and missing dynein arms in nasal cilia. A video system was used to record movement of cilia obtained by nasal brushings for analysis of wave form and beat frequency. Two patterns of abnormal ciliary beat were observed; an oscillating and a rotating type of motion. There was no evidence of planar coordination or metachronicity. This abnormal motion was present in up to 40 percent of cells and the remainder were totally immotile. Thus, in Kartagener syndrome many ciliated cells are motile, but the motion is abnormal. We suggest that “immotile cilia syndrome” is a misnomer, and recommend it be renamed “dyskinetic cilia syndrome.”

Section snippets

Methods

Three subjects with Kartagener syndrome were studied: (1) a 61-year-old woman, (2) a 28-year-old woman, and (3) her 36-year-old brother. In each case, there was absent nasal and pulmonary mucociliary transport⁵ and absence of dynein arms in cilia on nasal mucosal biopsy.⁷ Nasal brushings and scrapings with a curette from the inferior nasal turbinate were suspended in oxygenated Krebs solution (pH 7.5), placed in a Dvorak-Stotler chamber (Nicholson Precision Instruments, Inc.) and continuously

Results

Many ciliated cells from each patient showed movement. In patient 1, 40 percent of all ciliated cells seen were motile, while in patients 2 and 3 the percentage of motile ciliated cells was 20 percent and 10 percent respectively. The measured beat frequency (± 1 SD) of motile cells was 11.7 ± 2.8 Hz in patient 1, 6.1 ± 1.9 Hz in patient 2 and 5.9±2 Hz in patient 3. The overall mean (± 1 SD) beat frequency for the three patients was 8.4 ± 3.6 Hz. In five normal subjects, virtually all of the

Discussion

It is generally believed that absence of dynein arms renders cilia non-motile, because the ATPase of the dynein arms is necessary for the sliding movement of ciliary micro-tubules.9, 10, 11 This should be re-evaluated in the light of our findings. Afzelius¹² has suggested that the absence of mucociliary transport and associated airway disease, in the presence of dynein arm deficient cilia, is due to ciliary immotility. Previous reports from our laboratory in such patients confirmed the absence

ACKNOWLEDGMENTS

The authors wish to acknowledge the suggestions of Dr. E. Michaelson, Mount Sinai Medical Center, Miami Beach re the video display and analyzer system, Dr. J. E. Zbar for his advice, and Miss Anne Popov and Mrs. Peggy Owens for typing the manuscript.

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From the Departments of Medicine and Anesthesia, St. Joseph's Hospital and McMaster University, Hamilton, Canada.

Supported by the Ontario Thoracic Society and Canadian Cystic Fibrosis Foundation.

Manuscript received June 9; revision accepted July 15.

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Chest

Clinical InvestigationsThe Dyskinetic Cilia Syndrome: Ciliary Motility in Immotile Cilia Syndrome

Section snippets

Methods

Results

Discussion

ACKNOWLEDGMENTS

Lancet

Absence of arms in the axoneme of immobile human spermatozoa

Biol Reprod

Lack of dynein arms in immotile human spermatozoa

J Cell Biol

Evidence for congenitally non-functioning cilia in the tracheobronchial tract in two subjects

Am Rev Respir Dis

The immotile-cilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility

N Engl J Med

Immotile cilia syndrome in individuals with and without Kartagener syndrome

Am Rev Respir Dis

Adenosine triphosphate-induced sliding of tubules in trypsin treated flagella of sea urchin sperm

Proc Nad Acad Sci (USA)

Clinical Investigations
The Dyskinetic Cilia Syndrome: Ciliary Motility in Immotile Cilia Syndrome