Genetic diseases of connective tissue: Williams syndrome. PI: Victoria Campuzano Uceda


Williams-Beuren syndrome (WBS) [OMIM 194050] is a neurodevelopmental disorder caused by the heterozygous deletion of 26-28 contiguous genes on chromosome 7q11.23 that affects 1/7500-1/20000 newborns. WBS individuals present mild to moderate intellectual disability, with a mean intelligence quotient (IQ) of 55-60. The syndrome is characterized by a unique cognitive functioning including relatively preserved expressive language and facial processing abilities along with hypersociability towards strangers but dramatic deficits in spatial cognition. Mainly due to Elastin (ELN) deficiency, WBS patients show a generalized arteriopathy characterized by hypertrophy of smooth muscle cells, increased number and disorganized lamellar structures, and fragmented elastic fibers. The complete deletion (CD) mouse model captures several behavioral and cardiovascular defects that are seen in humans with WBS.

Victoria Campuzano Uceda
Assistant professor
Serra-Hunter Program

  • Identification of molecular biomarkers: Analyze mitochondrial function in tissues (and cells derived from them) mainly affected in the CD mouse model (cardiac and neural).
  • Identification of the major player in mitochondria dysfunction: genetic rescue of DNAJC30 gene expression in cell cultures derived from the CD model.
  • Analysis of a possible depressive behaviour: Behavioral characterization of CD mouse model in relationship with the depressive phenotype.
  • Identification of “in vivo” cardiovascular biomarquers: Electrocardiogram to CD animals
  • Genetic rescue by means of Adeno-associates of the expression of the DNAJC30 gene
  • Pharmacological intervention: combining anti-hypertensives and mitochondria-targeted therapies

  • Studying the mitochondrial health of cardiomyocytes and vascular smooth muscle cells in Williams Syndrome

Fundation Autour des Williams (France)
PI: Victoria Campuzano

  • Molecular bases in the effectiveness of the treatment of Williams-Beuren syndrome by inhibitors of the monoacyl glycerol lipase

Fondation Jerome Lejeune
PI: Victoria Campuzano

  • Genetic and pharmacological recovery of cognition deficit, social interaction and anxiety through GTF2I functional efficiency

Ministerio de Economía y Competitividad (MCINN)
OI: Victoria Campuzano

  • Modulación de la Expresión de GTF2I: Correlación entre Fenotipo Cognitivo, Morfologia Neural y Alteración Molecular (Ref: SAF2012-40036)

Ministerio de Economía y Competitividad (MCINN)

PI: Victoria Campuzano

For more information for PI publications click in the links:
WoS Researcher ID: G-1826-2014
SCOPUS Author ID: 6602504477

ORCID: 0000-0001-8128-2641

F. Jiménez-Altayó, P. Ortiz-Romero, L. Puertas-Umbert, B. Pérez, E. Vila, P. D’Ocon, V. Campuzano (2019) “Analysis of thoracic aorta function in young Williams-Beuren syndrome mice reveals compromised α1-adrenergic contractions mediated by increased nitric oxide signalling” Scientific Reports (SREP-19-27340, in revision) Q1

M. Dasilva, A. Navarro-Guzman, P. Ortiz-Romero, A. Camassa, A. Muñoz-Cespedes, V. Campuzano, M. V Sanchez-Vives (2019). Altered neocortical dynamics in a mouse model of Williams-Beuren syndrome. Mol. Neurobiol doi: 10.1007/ s12035 -019- 01732-4. PMID: 31471877 Q1

P. Ortiz-Romero, C. Borralleras, M.Bosch-Morató, B. Guivernau, G. Albericio, F. J. Muñoz, L. A. Pérez-Jurado, V.Campuzano (2018). Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model. PLoS One. Mar 19; 13 (3): e0194476. doi: 10.1371/ journal.pone .0194476. PMID:29554110 Q1

C. Borralleras, S. Mato, T. Amédée, C. Matute, C. Mulle, L. A. Pérez-Jurado and V. Campuzano (2016). Synaptic plasticity and Spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome. Mol Brain: 9(1): 76. PMID:27485321 Q2

Campuzano V  y Estivill X. Bases Moleculares de la Herencia. In the book TRATADO DE MEDICINA INTERNA FARRERAS-ROZMAN XVIII  (pg. 1121-1129). (2016) ISBN: 978-84-8086-487-9

Borralleras, C., Sahun I., Perez-Jurado, L. A and Campuzano V.(2015). Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome. MOL THER. 23 (11). PMID: 26216516. Q1.

Palacios-Verdu, G. M; Segura-Puimedon, M.; Borralleras, C.; Flores, R.; Del Campo, M.; Campuzano, V. and Perez-Jurado, L. A (2015). Metabolic abnormalities in Williams-Beuren síndrome. J. MED GENT 52 (4): 248-55. doi: 10.1136/ jmedgenet- 2014- 102713 Q1. PMID: 25663682.

Segura-Puimedon M, Sahún I, Velot E, Dubus P, Borralleras C, Rodrigues AJ, Valero MC, Valverde O, Sousa N, Herault Y, Dierssen M, Pérez-Jurado LA, Campuzano V. Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder. HUM MOL GENET. 2014 Dec 15; 23 (24): 6481-94. doi: 10.1093/ hmg/ ddu368. Q1. PMID: 25027326

Segura-Puimedon, M.; Borralleras, C.; Perez-Jurado, L. A and Campuzano V. (2013). TFII-I regulates target genes in the PI-3K and TGF-beta signaling pathways through a novel DNA binding motif. Gene. 2013 Sep 25; 527(2): 529-36. doi: 10.1016/ j.gene. 2013.06.050. Epub 2013 Jul 3. PMID: 23831514

Campuzano V, Segura-Puimedon M, Terrado V, Sánchez-Rodríguez C, Coustets M, Menacho-Márquez M, Nevado J, Bustelo XR, Francke U, Pérez-Jurado LA.(2012). Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome. PLoS Genet. 2012 Feb; 8(2): e1002458. doi: 10.1371/ journal. pgen. 1002458. Epub 2012 Feb 2. PMID: 22319452

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