Generacion y caracterizacion de modelos del sindrome de Down en el raton

Translated title of the contribution: Generation and characterisation of mouse models of Down syndrome

M. Dierssen, C. Fillat, M. Pritchard, M. Arbones, J. M. Aran, J. Florez, Xavier P. Estivill

Research output: Contribution to journalArticle


Trisomy of chromosome 21 or Down syndrome (DS) is the most common genetic cause of mental retardation. The neuropathological alterations in DS are probably the consequence of the changes in the differentiation and development of the central nervous system. The most probable consequence of the presence of the three copies of chromosome 21 is the overexpression of several of the 300 to 500 genes it contains, some of which will present prominent effects. The necessity to understand the neuropathological basis of DS and the lack of biological specific models for pharmacological trials has determined the interest in the search for mouse models in the area of experimental psychopathology that will permit in vivo study of the biological function of any given gene, of the consequences of the alteration in its genetic dosage and its repercussion in the expression of other genes. The generation of murine models with partial trisomy of the sintenic region to the human chromosome 21, the overexpression of specific genes (one or various simultaneously), the abolition of the expression of genes by means of knockouts (in a general level or in specific tissues), or the use of antisense oligonucleotids, allows us to evaluate neuropathological aspects related to DS. It will also help identify new therapeutic strategies, and will facilitate the trial of new potentially therapeutic pharmaceutical products.

Original languageSpanish
Pages (from-to)18-24
Number of pages7
JournalSD Revista Medica Internacional sobre el Sindrome de Down
Issue number7
Publication statusPublished - 1999
Externally publishedYes



  • Alzheimer
  • Down syndrome
  • Murine models
  • Therapeutic
  • Trisomy 21

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Medicine (miscellaneous)

Cite this

Dierssen, M., Fillat, C., Pritchard, M., Arbones, M., Aran, J. M., Florez, J., & Estivill, X. P. (1999). Generacion y caracterizacion de modelos del sindrome de Down en el raton. SD Revista Medica Internacional sobre el Sindrome de Down, (7), 18-24.