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IFT46 expression in the nasal mucosa of Primary Ciliary Dyskinesia patients : preliminary study


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Título : IFT46 expression in the nasal mucosa of Primary Ciliary Dyskinesia patients : preliminary study
Autor : Mata Roig, Manuel
Zurriaga Carda, Javier
Milian Medina, Lara
Reula Martín, Ana
Armengot, Miguel
Ruiz Sauri, Amparo
Carda Batalla, Carmen
Materias: Enfermedades crónicas.Respiratory organs - Diseases.Otolaryngology.Otorrinolaringología.Disquinesia ciliar, Síndrome de - Aspectos genéticos.Aparato respiratorio - Enfermedades.Chronic diseases.Kartagener, Síndrome de - Aspectos genéticos.Primary ciliary dyskinesia - Genetic aspects.Kartagener's syndrome - Genetic aspects.
Editorial : SAGE
Citación : Mata, M., Zurriaga, J., Milian, L., Reula, A., Armengot, M., Ruiz-Sauri, A. & Carda, C. (2021). IFT46 expression in the nasal mucosa of Primary Ciliary Dyskinesia patients: preliminary study. Allergy & Rhinology, vol. 12, art. 2152656721989288 (11 feb.). DOI: https://doi.org/10.1177/2152656721989288
Resumen : Background: Primary ciliary dyskinesia (PCD) is characterised by an imbalance in mucociliary clearance leading to chronic respiratory infections. Cilia length is considered to be a contributing factor in cilia movement. Recently, IFT46 protein has been related to cilia length. Therefore, this work aims to study IFT46 expression in a PCD patients cohort and analyse its relationship with cilia length and function, as it was not previously described. Materials and methods: The expression of one intraflagellar transport (IFT46) and two regulating ciliary architecture (FOXJ1 and DNAI2) genes, as well as cilia length of 27 PCD patients, were measured. PCD patients were diagnosed based on clinical data, and cilia function and ultrastructure. Gene expression was estimated by real-time RT-PCR and cilia length by electron microscopy in nasal epithelium biopsies. Results and conclusions: While IFT46 expression was only diminished in patients with short cilia, FOXJ1, and DNAI2 expression were reduced in all PCD patient groups compared to controls levels. Among the PCD patients, cilia were short in 44% (5.9 0.70 mm); nine of these (33% from the total) patients’ cilia also had an abnormal ultrastructure. Cilia length was normal in 33% of patients (6.4 0.39 mm), and only three patients’ biopsies indicated decreased expression of dynein.
Descripción : Este artículo se encuentra disponible en la siguiente URL: https://journals.sagepub.com/doi/pdf/10.1177/2152656721989288
URI : http://hdl.handle.net/10637/13633
Derechos: http://creativecommons.org/licenses/by-nc/4.0/deed.es
ISSN : 2152-6575
2152-6567 (Electrónico)
Fecha de publicación : 11-feb-2021
Centro : Universidad Cardenal Herrera-CEU
Aparece en las colecciones: Dpto. Ciencias Biomédicas





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