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Desmin and dystrophin abnormalities in upper airway muscles of snorers and patients with sleep apnea
Umeå University, Faculty of Medicine, Department of Integrative Medical Biology (IMB).
Umeå University, Faculty of Medicine, Department of Surgical and Perioperative Sciences, Surgery.
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Otorhinolaryngology.
Umeå University, Faculty of Medicine, Department of Odontology.ORCID iD: 0000-0001-8807-3500
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2019 (English)In: Respiratory Research, ISSN 1465-993X, Vol. 20, article id 31Article in journal (Refereed) Published
Abstract [en]

The pathophysiology of obstruction and swallowing dysfunction in snores and sleep apnea patients remains unclear. Neuropathy and to some extent myopathy have been suggested as contributing causes. Recently we reported an absence and an abnormal isoform of two cytoskeletal proteins, desmin, and dystrophin, in upper airway muscles of healthy humans. These cytoskeletal proteins are considered vital for muscle function. We aimed to investigate for muscle cytoskeletal abnormalities in upper airways and its association with swallowing dysfunction and severity of sleep apnea. Cytoskeletal proteins desmin and dystrophin were morphologically evaluated in the uvula muscle of 22 patients undergoing soft palate surgery due to snoring and sleep apnea and in 10 healthy controls. The muscles were analysed with immunohistochemical methods, and swallowing function was assessed using videoradiography. Desmin displayed a disorganized pattern in 21 +/- 13% of the muscle fibres in patients, while these fibers were not present in controls. Muscle fibres lacking desmin were present in both patients and controls, but the proportion was higher in patients (25 +/- 12% vs. 14 +/- 7%, p = 0.009). The overall desmin abnormalities were significantly more frequent in patients than in controls (46 +/- 18% vs. 14 +/- 7%, p < 0.001). In patients, the C-terminus of the dystrophin molecule was absent in 19 +/- 18% of the desmin-abnormal muscle fibres. Patients with swallowing dysfunction had 55 +/- 10% desmin-abnormal muscle fibres vs. 22 +/- 6% in patients without swallowing dysfunction, p = 0.002. Cytoskeletal abnormalities in soft palate muscles most likely contribute to pharyngeal dysfunction in snorers and sleep apnea patients. Plausible causes for the presence of these abnormalities is traumatic snoring vibrations, tissue stretch or muscle overload.

Place, publisher, year, edition, pages
BioMed Central, 2019. Vol. 20, article id 31
Keywords [en]
Muscle, Upper airway dysfunction, Dysphagia, Pathophysiology, Cytoskeletal abnormalities, desmin, dystrophin
National Category
Cell and Molecular Biology Respiratory Medicine and Allergy
Identifiers
URN: urn:nbn:se:umu:diva-157211DOI: 10.1186/s12931-019-0999-9ISI: 000459188400003PubMedID: 30764835OAI: oai:DiVA.org:umu-157211DiVA, id: diva2:1302963
Available from: 2019-04-08 Created: 2019-04-08 Last updated: 2019-04-08Bibliographically approved

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Shah, FarhanFranklin, Karl AHolmlund, ThorbjörnLevring Jäghagen, EvaBerggren, DianaForsgren, StureStål, Per

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Shah, FarhanFranklin, Karl AHolmlund, ThorbjörnLevring Jäghagen, EvaBerggren, DianaForsgren, StureStål, Per
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Department of Integrative Medical Biology (IMB)SurgeryOtorhinolaryngologyDepartment of Odontology
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