| Autor: |
Elise K. Kronquist, Maninder Kaur, Leah M. Gober, Russell H. Knutsen, Yi-Ping Fu, Zu-Xi Yu, Danielle R. Donahue, Marcus Y. Chen, Sharon Osgood, Neelam Raja, Mark D. Levin, Amisha Barochia, Beth A. Kozel |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Diagnostics, Vol 12, Iss 6, p 1438 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2075-4418 |
| DOI: |
10.3390/diagnostics12061438 |
| Popis: |
Williams–Beuren syndrome (WS) results from the deletion of 25–27 coding genes, including elastin (ELN), on human chromosome 7q11.23. Elastin provides recoil to tissues; emphysema and chronic obstructive pulmonary disease have been linked to its destruction. Consequently, we hypothesized that elastin insufficiency would predispose to obstructive features. Twenty-two adults with WS (aged 18–55) and controls underwent pulmonary function testing, 6 min walk, and chest computed tomography (CT). Lung and airspace dimensions were assessed in Eln+/− and control mice via microCT and histology. The forced expiratory volume in 1 s (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) were lower in adults with WS (p < 0.0001 and p < 0.05, respectively). The FEV1/FVC ratio was more frequently below the lower limit of normal in cases (p < 0.01). The ratio of residual volume to total lung capacity (RV/TLC, percent predicted) was higher in cases (p < 0.01), suggesting air trapping. People with WS showed reduced exercise capacity (p < 0.0001). In Eln+/− mice, ex vivo lung volumes were increased (p < 0.0001), with larger airspaces (p < 0.001). Together these data show that elastin insufficiency impacts lung physiology in the form of increased air trapping and obstruction, suggesting a role for lung function monitoring in adults with WS. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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