Primary Ciliary Dyskinesia: Clinical Criteria Indicating Ultrastructural Studies

Busquets, Rosa M.; Caballero‐Rabasco, María Araceli; Velasco, Marta; Lloreta, Josep; Garcı́a-Algar, Óscar

doi:10.1016/j.arbr.2013.01.013

Cited by 3 publications

(2 citation statements)

References 27 publications

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“…Young children and adolescents usually have a history of recurrent chest infections, often with a characteristic ‘wet’ cough . Some of these patients may have been erroneously diagnosed with ‘atypical asthma’, and most will have had little or no response to anti‐asthma therapy …”

Section: Clinical Manifestations Of Pcdmentioning

confidence: 99%

“…29 Some of these patients may have been erroneously diagnosed with 'atypical asthma', and most will have had little or no response to anti-asthma therapy. 32 Clinical presentation is mostly to the general practitioner or general paediatrician. Individuals often report some temporary relief from antibiotics before the wet cough and production of sputum return.…”

Section: Nrdmentioning

confidence: 99%

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Primary ciliary dyskinesia: Overlooked and undertreated in children

Hosie

Fitzgerald

Jaffé

et al. 2014

J Paediatrics Child Health

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Primary ciliary dyskinesia (PCD) is a multi-organ disorder associated with chronic oto-sino-pulmonary disease, neonatal respiratory distress, situs abnormalities and reduced fertility. Repeated respiratory tract infections leads to the almost universal development of bronchiectasis. These clinical manifestations are a consequence of poorly functioning motile cilia. However, confirming the diagnosis is quite difficult and is often delayed, so the true incidence of PCD may be significantly higher than current estimates. Nasal nitric oxide has been earmarked as a useful screening tool for identifying patients, but its use is limited in pre-school-aged children. Due to the rarity of PCD, the evidence base for management is somewhat limited, and treatment regimens are extrapolated from other suppurative lung disorders, like cystic fibrosis.

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Section: Clinical Manifestations Of Pcdmentioning

confidence: 99%

Section: Nrdmentioning

confidence: 99%

Primary ciliary dyskinesia: Overlooked and undertreated in children

Hosie

Fitzgerald

Jaffé

et al. 2014

J Paediatrics Child Health

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The development and functions of multiciliated epithelia

Spassky

Meunier

2017

Nat Rev Mol Cell Biol

315

355

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Multiciliated cells are epithelial cells that are in contact with bodily fluids and are required for the proper function of major organs including the brain, the respiratory system and the reproductive tracts. Their multiple motile cilia beat unidirectionally to remove particles of external origin from their surface and/or drive cells or fluids into the lumen of the organs. Multiciliated cells in the brain are produced once, almost exclusively during embryonic development, whereas in respiratory tracts and oviducts they regenerate throughout life. In this Review, we provide a cell-to-organ overview of multiciliated cells and highlight recent studies that have greatly increased our understanding of the mechanisms driving the development and function of these cells in vertebrates. We discuss cell fate determination and differentiation of multiciliated cells, and provide a comprehensive account of their locations and functions in mammals.

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Cyclin O controls entry into the cell-cycle variant required for multiciliated cell differentiation

Damaa,

Serizay,

Balagué

et al. 2024

Preprint

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Multiciliated cells (MCC) ensure proper fluid circulation in various organs in metazoans. Their differentiation is marked by the massive amplification of cilia-nucleating centrioles and is known to be controlled by various cell cycle components. In a companion study, we show that the differentiation of MCC is driven by a genuine cell-cycle variant characterized by sequential and wave-like expression of canonical and non-canonical cyclins such as Cyclin O (CCNO). Patients with CCNO mutations exhibit a subtype of Primary Ciliary Dyskinesia (PCD) designated as Reduced Generation of Multiple Motile Cilia (RGMC), yet the role of CCNO during MCC differentiation remains unclear. Here, using mice and human cellular models, single cell transcriptomics and functional studies, we show that Ccno is activated during a strategic temporal window at the crossroads between the onset of MCC differentiation, the entry into the MCC cell cycle variant, and the activation of the centriole biogenesis program. We find that the absence of Ccno leads to a block of MCC progenitor differen- tiation at the G1/S-like transition, just before the beginning of centriole formation. This leads to a complete lack of centrioles and cilia in mouse brain and human airway MCC. Altogether, our study identifies CCNO as a core regulator of entry into the MCC cell cycle variant and shows that the coupling of centriole biogenesis to an S-like phase, maintained in MCC, is dependent on CCNO.

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Primary Ciliary Dyskinesia: Clinical Criteria Indicating Ultrastructural Studies

Cited by 3 publications

References 27 publications

Primary ciliary dyskinesia: Overlooked and undertreated in children

Primary ciliary dyskinesia: Overlooked and undertreated in children

The development and functions of multiciliated epithelia

Cyclin O controls entry into the cell-cycle variant required for multiciliated cell differentiation

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