RT Journal Article
T1 Dysfunctional Mitochondria in the Cardiac Fibers of a Williams–Beuren Syndrome Mouse Model
A1 Abdalla, Noura
A1 Tobías-Baraja, Ester
A1 Gonzalez, Alejandro
A1 Garrabou, Gloria
A1 Egea, Gustavo
A1 Campuzano, Victoria
AB 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.
PB MDPI
SN 1422-0067
YR 2023
FD 2023-06-13
LK https://hdl.handle.net/20.500.14352/104884
UL https://hdl.handle.net/20.500.14352/104884
LA eng
NO 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/ijms241210071
DS Docta Complutense
RD 16 abr 2025