title: Increased upper airway collapsibility in a mouse model of Marfan syndrome.
abstract: Marfan syndrome (MFS) is a genetic disorder caused by mutations in the FBN1 gene that codifies for fibrilin-1. MFS affects elastic fiber formation and the resulting connective tissue shows abnormal tissue laxity and organization. Although an increased prevalence of obstructive sleep apnea among patients with MFS has been described, the potential effects of this genetic disease on the collapsible properties of the upper airway are unknown. The aim of this study was to assess the collapsible properties of the upper airway in a mouse model of MFS Fbn1((C1039G/+)) that is representative of most of the clinical manifestations observed in human patients. The upper airway in wild-type and Marfan mice was cannulated and its critical pressure (Pcrit) was measured in vivo by increasing the negative pressure through a controlled pressure source. Pcrit values from MFS mice were higher (less negative) compared to wild-type mice (-3.1±0.9cmH2O vs. -7.8±2.0cm H2O) suggesting that MFS increases the upper airway collapsibility, which could in turn explain the higher prevalence of OSA in MFS patients.
authors.affiliation: Unitat Biofísica i Bioenginyeria, Facultat de Medicina, Universitat de Barcelona - IDIBAPS, Barcelona, Spain; Master's and Doctoral Degree Programs in Rehabilitation Sciences, Nove de Julho University, Sao Paulo, Brazil.
authors.forename: Renata Kelly
authors.initials: RK
authors.lastname: da Palma
authors.affiliation: Unitat Biofísica i Bioenginyeria, Facultat de Medicina, Universitat de Barcelona - IDIBAPS, Barcelona, Spain; CIBER Enfermedades Respiratorias, Bunyola, Spain.
authors.forename: Ramon
authors.initials: R
authors.lastname: Farré
authors.affiliation: CIBER Enfermedades Respiratorias, Bunyola, Spain; Laboratori de la Son, Pneumologia, Hospital Clinic-Facultat de Medicina, Universitat de Barcelona, Barcelona, Spain.
authors.forename: Josep Maria
authors.initials: JM
authors.lastname: Montserrat
authors.affiliation: Department de Biologia Cellular, Immunologia i Neurociències, Facultat de Medicina, IDIBAPS - Universitat de Barcelona, Barcelona, Spain.
authors.forename: Darya
authors.initials: D
authors.lastname: Gorbenko Del Blanco
authors.affiliation: Department de Biologia Cellular, Immunologia i Neurociències, Facultat de Medicina, IDIBAPS - Universitat de Barcelona, Barcelona, Spain.
authors.forename: Gustavo
authors.initials: G
authors.lastname: Egea
authors.affiliation: Master's and Doctoral Degree Programs in Rehabilitation Sciences, Nove de Julho University, Sao Paulo, Brazil.
authors.forename: Luís Vicente Franco
authors.initials: LV
authors.lastname: de Oliveira
authors.affiliation: Unitat Biofísica i Bioenginyeria, Facultat de Medicina, Universitat de Barcelona - IDIBAPS, Barcelona, Spain; Institute for Bioengineering of Catalonia, Spain.
authors.forename: Daniel
authors.initials: D
authors.lastname: Navajas
authors.affiliation: Unitat Biofísica i Bioenginyeria, Facultat de Medicina, Universitat de Barcelona - IDIBAPS, Barcelona, Spain; CIBER Enfermedades Respiratorias, Bunyola, Spain. Electronic address: isaac.almendros@ub.edu.
authors.forename: Isaac
authors.initials: I
authors.lastname: Almendros
mesh_terms: D000402:Airway Obstruction / Q000209:etiology* / Q000235:genetics; D000403:Airway Resistance / Q000235:genetics; D000818:Animals; D004195:Disease Models, Animal; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D008297:Male; D008382:Marfan Syndrome / Q000150:complications* / Q000235:genetics; D051379:Mice; D008810:Mice, Inbred C57BL; D008822:Mice, Transgenic; D008840:Microfilament Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D017286:Polysomnography; D012119:Respiration / Q000235:genetics; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines; C000605724:Fbn1 protein, mouse
keywords: Marfan syndrome; Obstructive sleep apnea; Upper airway collapsibility