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Desmin gene expression is not ubiquitous in all upper airway myofibers and the pattern differs between healthy and sleep apnea subjects
Umeå University, Faculty of Medicine, Department of Medical and Translational Biology.ORCID iD: 0000-0002-9340-5298
Umeå University, Faculty of Medicine, Department of Medical and Translational Biology.
Umeå University, Faculty of Medicine, Department of Medical and Translational Biology.ORCID iD: 0000-0003-3730-1790
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Otorhinolaryngology.
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2024 (English)In: European Journal of Medical Research, ISSN 0949-2321, E-ISSN 2047-783X, Vol. 29, no 1, article id 216Article in journal (Refereed) Published
Abstract [en]

Background: Desmin is a major cytoskeletal protein considered ubiquitous in mature muscle fibers. However, we earlier reported that a subgroup of muscle fibers in the soft palate of healthy subjects and obstructive sleep apnea patients (OSA) lacked immunoexpression for desmin. This raised the question of whether these fibers also lack messenger ribonucleic acid (mRNA) for desmin and can be considered a novel fiber phenotype. Moreover, some fibers in the OSA patients had an abnormal distribution and aggregates of desmin. Thus, the aim of the study was to investigate if these desmin protein abnormalities are also reflected in the expression of desmin mRNA in an upper airway muscle of healthy subjects and OSA patients.

Methods: Muscle biopsies from the musculus uvulae in the soft palate were obtained from ten healthy male subjects and six male patients with OSA. Overnight sleep apnea registrations were done for all participants. Immunohistochemistry, in-situ hybridization, and reverse transcription–quantitative polymerase chain reaction (RT–qPCR) techniques were used to evaluate the presence of desmin protein and its mRNA.

Results: Our findings demonstrated that a group of muscle fibers lacked expression for desmin mRNA and desmin protein in healthy individuals and OSA patients (12.0 ± 5.6% vs. 23.1 ± 10.8%, p = 0.03). A subpopulation of these fibers displayed a weak subsarcolemmal rim of desmin accompanied by a few scattered mRNA dots in the cytoplasm. The muscles of OSA patients also differed from healthy subjects by exhibiting muscle fibers with reorganized or accumulated aggregates of desmin protein (14.5 ± 6.5%). In these abnormal fibers, the density of mRNA was generally low or concentrated in specific regions. The overall quantification of desmin mRNA by RT–qPCR was significantly upregulated in OSA patients compared to healthy subjects (p = 0.01).

Conclusions: Our study shows evidence that muscle fibers in the human soft palate lack both mRNA and protein for desmin. This indicates a novel cytoskeletal structure and challenges the ubiquity of desmin in muscle fibers. Moreover, the observation of reorganized or accumulated aggregates of desmin mRNA and desmin protein in OSA patients suggests a disturbance in the transcription and translation process in the fibers of the patients.

Place, publisher, year, edition, pages
BioMed Central (BMC), 2024. Vol. 29, no 1, article id 216
Keywords [en]
Cytoskeleton, Desmin, mRNA, Muscle fiber injury, Obstructive sleep apnea, Snoring, Vibration
National Category
Respiratory Medicine and Allergy Cell and Molecular Biology
Identifiers
URN: urn:nbn:se:umu:diva-223075DOI: 10.1186/s40001-024-01812-9PubMedID: 38566246Scopus ID: 2-s2.0-85189198504OAI: oai:DiVA.org:umu-223075DiVA, id: diva2:1852376
Funder
Swedish Research Council, 2018‐02574The Kempe Foundations, JCSMK23-0001Available from: 2024-04-18 Created: 2024-04-18 Last updated: 2024-04-18Bibliographically approved

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Stål, PerNord, Hannavon Hofsten, JonasHolmlund, ThorbjörnShah, Farhan Khalid

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