Interference with either transport system can result in ciliary dysfunction and ciliopathy-like phenotypes [1-3].
Ciliary dysfunction and disruption in trafficking of proteins are associated with early-onset severe retinal degeneration and blindness (62).
Bardet-Biedl syndrome (BBS) is the prototypical human genetic disorder associated with ciliary dysfunction and obesity (6, 7).
Mutations in certain PCD genes result in ciliary dysfunction and can give a specific ultrastructural defect on EM (Knowles et al. 2013a).
In both eosinophilic and noneosinophilic CRS diseases, the presence of an altered epithelium, ciliary dysfunction, and mucus hyperplasia all contribute to bacterial overgrowth and, ultimately, this leads to the formation of bacterial biofilms.
Chronic obstructive pulmonary disease (COPD) is characterised by exacerbations some of which result in increased cough and excessive sputum production caused by mucus hyper-secretion and ciliary dysfunction.
Cilia are critical for diverse functions, from motility to signal transduction, and ciliary dysfunction causes inherited diseases termed ciliopathies.
Moreover it has been recently shown that mutations in WDR34, a negative regulator of the NF-κB activation pathway, are associated with skeletal ciliopathies and ciliary dysfunction [ 55].
Recent studies in humans and model organisms have identified a direct relationship between cyst formation and dysfunctional ciliary proteins, and have suggested that ciliary dysfunction is a major driver of cystogenesis.
Consequently, ciliary dysfunction manifests predominantly by sinusitis, bronchitis and male infertility and less frequently by hydrocephalus, retinal degeneration, sensory hearing loss and polycystic kidney disease.
