دورية أكاديمية
Dysfunctional Mitochondria in the Cardiac Fibers of a Williams–Beuren Syndrome Mouse Model
| العنوان: | Dysfunctional Mitochondria in the Cardiac Fibers of a Williams–Beuren Syndrome Mouse Model |
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| المؤلفون: | Abdalla, Noura, Tobías-Baraja, Ester, Gonzalez, Alejandro, Garrabou, Gloria, Egea, Gustavo, Campuzano, Victoria |
| بيانات النشر: | MDPI |
| سنة النشر: | 2023 |
| المجموعة: | Universidad Complutense de Madrid (UCM): E-Prints Complutense |
| مصطلحات موضوعية: | 615:54, 615.31, Williams–Beuren syndrome, CD mouse model, mitochondria, ATP synthesis, respiratory chain, cardiac tissue, Química farmaceútica, 23 Química |
| الوصف: | Williams–Beuren syndrome (WBS) is a rare neurodevelopmental disorder that, together with a rather characteristic neurocognitive profile, presents a strong cardiovascular phenotype. The cardiovascular features of WBS are mainly related to a gene dosage effect due to hemizygosity of the elastin (ELN) gene; however, the phenotypic variability between WBS patients indicates the presence of important modulators of the clinical impact of elastin deficiency. Recently, two genes within the WBS region have been linked to mitochondrial dysfunction. Numerous cardiovascular diseases are related to mitochondrial dysfunction; therefore, it could be a modulator of the phenotype present in WBS. Here, we analyze mitochondrial function and dynamics in cardiac tissue from a WBS complete deletion (CD) model. Our research reveals that cardiac fiber mitochondria from CD animals have altered mitochondrial dynamics, accompanied by respiratory chain dysfunction with decreased ATP production, reproducing alterations observed in fibroblasts from WBS patients. Our results highlight two major factors: on the one hand, that mitochondrial dysfunction is probably a relevant mechanism underlying several risk factors associated with WBS disease; on the other, the CD murine model mimics the mitochondrial phenotype of WBS and could be a great model for carrying out preclinical tests on drugs targeting the mitochondria. ; Depto. de Química en Ciencias Farmacéuticas ; Fac. de Farmacia ; TRUE ; pub ; Descuento UCM |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1422-0067 |
| العلاقة: | https://hdl.handle.net/20.500.14352/104884Test; Abdalla, N.; Tobías-Baraja, E.; Gonzalez, A.; Garrabou, G.; Egea, G.; Campuzano, V. Dysfunctional Mitochondria in the Cardiac Fibers of a Williams–Beuren Syndrome Mouse Model. Int. J. Mol. Sci. 2023, 24, 10071. https://doi.org/10.3390/ijms241210071Test; https://www.mdpi.com/1422-0067/24/12/10071Test |
| DOI: | 10.3390/ijms241210071 |
| الإتاحة: | https://doi.org/20.500.14352/10488410.3390/ijms241210071Test https://hdl.handle.net/20.500.14352/104884Test https://www.mdpi.com/1422-0067/24/12/10071Test |
| حقوق: | Attribution 4.0 International ; http://creativecommons.org/licenses/by/4.0Test/ ; open access |
| رقم الانضمام: | edsbas.3E1E80A8 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 14220067 |
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| DOI: | 10.3390/ijms241210071 |