Pathogenetic mechanisms in Down Syndrome

Background: Although it has been known for some time that there are 200–400 genes on Chromosome 21, there has been a paucity of information as to which of these is responsible for causing the Down syndrome phenotype. Recently, new data have focussed attention on several key genes. Method: Review of...

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Bibliographic Details
Published in:Journal of intellectual disability research 2008-10, Vol.52 (10), p.813-813
Main Authors: Einfeld, S., Götz, J., Holsinger, R. M. D.
Format: Article
Language:English
Subjects:
Alzheimer dementia
Alzheimer's disease
Chromosomes
Down syndrome
Down's syndrome
DSCR1A
DYRK1A
Gene therapy
Genes
Genetics
Phenotypes
Proteins
Rodents
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Summary:Background: Although it has been known for some time that there are 200–400 genes on Chromosome 21, there has been a paucity of information as to which of these is responsible for causing the Down syndrome phenotype. Recently, new data have focussed attention on several key genes. Method: Review of relevant literature identified through Medline and Google Scholar. Results: Two genes in the Down syndrome critical region, DYRK1A and DSCR1 have been shown to contribute to Down syndrome features in mouse models. A mutation of DYRK1A has been identified in a human family with a mild Down syndrome phenotype. A function of DYRK1A is to phosphorylate tau protein, a key step in the pathogenesis of Alzheimer dementia. Conclusion: Recent research has substantially advanced our knowledge of possible pathogenic pathways in Down syndrome. Ultimately, gene therapy for Down syndrome may no longer be fanciful.
ISSN:0964-2633
1365-2788
DOI:10.1111/j.1365-2788.2008.01119_7.x