Correlation between cognitive phenotype, neural morphology and molecular alterations in mouse models of Williams-Beuren syndrome: new therapeutic approaches

• Autores: Cristina Borralleras Fumaña
• Directores de la Tesis: Maria Victoria Campuzano Uceda (dir. tes.), L. A. Pérez Jurado (codir. tes.)
• Lectura: En la Universitat Pompeu Fabra ( España ) en 2016
• Idioma: inglés
• Tribunal Calificador de la Tesis: Maria Victoria Sanchez Vives (presid.), Olga Valverde Granados (secret.), Giuseppe Testa (voc.)
• Programa de doctorado: Programa de Doctorado en Biomedicina por la Universidad Pompeu Fabra
• Materias:
  • Ciencias de la vida
    • Biología animal (zoología)
      • Comportamiento animal
    • Genética
  • Sociología
    • Problemas sociales
      • Enfermedad
• Enlaces
  • Tesis en acceso abierto en: TDX
• Resumen

  • Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder caused by a heterozygous deletion of 26-28 contiguous genes in the 7q11.23 region. So far, a great deal of attention has been focused on its unique and distinctive neurocognitive profile. Although important progress has been made with regards to clinical characterization or genotype-phenotype correlations, a much deeper insight into the neuropathological features of WBS would be of great interest. In this thesis project, we have used a WBS mouse model carrying a heterozygous deletion that mimics the most common deletion found in patients. We have characterized the cognitive and behavioral phenotype of these mice and we have indentified molecular and neuroanatomical alterations relevant for the disease. Moreover, we have attempted two novel therapeutic strategies: a gene therapy and a pharmacological approach. The results obtained highlight the utility of this animal model to study the mechanisms underlying the disease as well as to evaluate novel therapeutic strategies.