A range of 30%-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance.
DNAAF6
X-chromosome inactivation
ciliary clearance
primary ciliary dyskinesia
Journal
The European respiratory journal
ISSN: 1399-3003
Titre abrégé: Eur Respir J
Pays: England
ID NLM: 8803460
Informations de publication
Date de publication:
11 Jul 2024
11 Jul 2024
Historique:
medline:
12
7
2024
pubmed:
12
7
2024
entrez:
11
7
2024
Statut:
aheadofprint
Résumé
Primary ciliary dyskinesia (PCD) is a genetic disorder caused by aberrant motile cilia function that results in defective ciliary airway clearance and subsequently to recurrent airway infections and bronchiectasis. How many functional multiciliated airway cells are sufficient to maintain ciliary airway clearance? To answer this question we exploited the molecular defects of the X-linked recessive PCD variant caused by pathogenic variants in PCD males with hemizygous pathogenic Our findings indicate that 30%-62% of functioning multiciliated respiratory cells are able to generate either normal or slightly reduced ciliary clearance. Because heterozygous females displayed either no or subtle respiratory symptoms, complete correction of 30% of cells by precision medicine might be able to improve ciliary airway clearance in PCD individuals as well as clinical symptoms.
Sections du résumé
BACKGROUND
BACKGROUND
Primary ciliary dyskinesia (PCD) is a genetic disorder caused by aberrant motile cilia function that results in defective ciliary airway clearance and subsequently to recurrent airway infections and bronchiectasis.
QUESTION
OBJECTIVE
How many functional multiciliated airway cells are sufficient to maintain ciliary airway clearance?
METHODS
METHODS
To answer this question we exploited the molecular defects of the X-linked recessive PCD variant caused by pathogenic variants in
RESULTS
RESULTS
PCD males with hemizygous pathogenic
CONCLUSIONS
CONCLUSIONS
Our findings indicate that 30%-62% of functioning multiciliated respiratory cells are able to generate either normal or slightly reduced ciliary clearance. Because heterozygous females displayed either no or subtle respiratory symptoms, complete correction of 30% of cells by precision medicine might be able to improve ciliary airway clearance in PCD individuals as well as clinical symptoms.
Identifiants
pubmed: 38991708
pii: 13993003.01441-2023
doi: 10.1183/13993003.01441-2023
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
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