GENETIC-HETEROGENEITY OF DYNEIN-DEFICIENCY IN CILIA FROM PATIENTS WITH RESPIRATORY-DISEASE

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Abstract
Impairment of mucociliary clearance as a result of genetic defects of cilia in the respiratory tract is recognized as a cause of chronic or recurrent respiratory disease. Respiratory cilia were examined by high resolution EM of nasal and bronchial biopsies from children and young adults from 6 mo. to 24 yr of age. Children (17) with immotile cilia syndrome were shown to have deficiencies of dynein arms in the cilia. Ultrastructural analysis reveals a variability of dynein defects from the lack of inner arms, the lack of outer arms, to the complete lack of both inner and outer dynein arms. The spectrum of defects that contribute to dynein-deficient cilia presumably reflects separate genetic determinants, affording further evidence that the immotile cilia syndrome is genetically heterogeneous. Despite ultrastructural differences in cilia, no significant differences are evident in the clinical course of the respiratory disease in affected subjects, or in the incidence of situs inversus that affects 50% of subjects.

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