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2023-01-21

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cc-by (c) Giannoccaro, Silvia et al., 2023
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/192615

Early biomarkers of Williams-Beuren syndrome: a preclinical study in the CD mouse model

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https://doi.org/10.3390/cells12030391

Resum

Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a chromosomic microdeletion (7q11.23). WBS has been modeled by a mouse line having a complete deletion (CD) of the equivalent mouse locus. This model has been largely used to investigate the etiopathological mechanisms of WBS, although pharmacological therapies have not been identified yet. Surprisingly, CD mice were so far mainly tested in adulthood, despite the developmental nature of WBS and the critical relevance of early timing for potential treatments. Here we provide for the first time a phenotypic characterization of CD mice of both sexes during infancy and adolescence, i.e., between birth and 7 weeks of age. CD pups of both sexes showed reduced body growth, delayed sensory development, and altered patterns of ultrasonic vocalizations and exploratory behaviors. Adolescent CD mice showed reduced locomotion and acoustic startle response, and altered social interaction and communication, the latter being more pronounced in female mice. Juvenile CD mutants of both sexes also displayed reduced brain weight, cortical and hippocampal dendritic length, and spine density. Our findings highlight the critical relevance of early neurobehavioral alterations as biomarkers of WBS pathology, underlying the importance of adolescence for identifying novel therapeutic targets for this neurological disorder.

Matèries

Síndrome de Williams, Malalties mentals, Marcadors bioquímics, Trastorns de la conducta, Producció de sons pels animals, Ratolins (Animals de laboratori), Adolescència

Matèries (anglès)

Williams syndrome, Mental illness, Biochemical markers, Behavior disorders, Sound production by animals, Mice (Laboratory animals), Adolescence

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Articles publicats en revistes (Biomedicina)

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GIANNOCCARO, Silvia, FERRAGUTO, Celeste, PETRONI, Valeria, MARCELLY, Coline, NOGUES, Xavier, CAMPUZANO UCEDA, María victoria, PIETROPAOLO, Susanna. Early biomarkers of Williams-Beuren syndrome: a preclinical study in the CD mouse model. _Cells_. 2023. Vol. 12, núm. 391. [consulta: 4 de febrer de 2026]. ISSN: 2073-4409. [Disponible a: https://hdl.handle.net/2445/192615]

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