Functional networks of Intellectual Disability genes

Oortveld , Merel

Researchers from the Department of Human Genetics Nijmegen and the CMBI have reported the first large-scale functional investigation of human genes involved in Intellectual Disability (ID) disorders. The study has been published in PLoS Genetics.

Although more than 400 genes have been identified that can cause ID disorders when mutated, their function remains poorly understood and the degree to which these disorders share a common molecular basis is unknown. Merel Oortveld, first author of the study, used the fruitflyDrosophilaas a model system to target 270 orthologs of human ID genes. Characterization of the resulting functional and morphological defects revealed groups of ID genes that work together in highly connected modules and show increased phenotypic similarity in humans. The identified conserved functional modules provide fundamental insights in the molecular architecture of cognitive (dys)function and may facilitate the development of therapeutic strategies that can treat genetically heterogeneous ID patients with a common medication.  

Oortveld MAW, Keerthikumar S, Oti M, Fernandes AC, Kochinke K, Nijhof B, van Engelen E, Ellenkamp T, Eshuis L, Galy A, van Bokhoven H, Habermann B, Brunner HG, Zweier C, Verstreken P, Huynen MA and Schenck A. Human Intellectual Disability genes form conserved functional modules inDrosophila.PLoS Genet. 2013 Oct 31; doi: 10.1371/journal.pbio.1003911.


Merel Oortveld in MAXLive: Link

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