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Pathogenetic mechanisms in Down Syndrome
Author(s) -
Einfeld S.,
Götz J.,
Holsinger R. M. D.
Publication year - 2008
Publication title -
journal of intellectual disability research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.941
H-Index - 104
eISSN - 1365-2788
pISSN - 0964-2633
DOI - 10.1111/j.1365-2788.2008.01119_7.x
Subject(s) - dyrk1a , down syndrome , chromosome 21 , phenotype , gene , dementia , pathogenesis , bioinformatics , genetics , chromosome , trisomy , mutation , medicine , biology , disease , pathology
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.