1932

Abstract

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 ∼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 and . Increased understanding of the pathogenesis will aid in better diagnosis and treatment of PCD.

Loading

Article metrics loading...

/content/journals/10.1146/annurev.physiol.69.040705.141301
2007-03-17
2024-03-29
Loading full text...

Full text loading...

/content/journals/10.1146/annurev.physiol.69.040705.141301
Loading
/content/journals/10.1146/annurev.physiol.69.040705.141301
Loading

Data & Media loading...

  • Article Type: Review Article
This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error