Nature Communications (Oct 2019)
Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors
- Rani K. Powers,
- Rachel Culp-Hill,
- Michael P. Ludwig,
- Keith P. Smith,
- Katherine A. Waugh,
- Ross Minter,
- Kathryn D. Tuttle,
- Hannah C. Lewis,
- Angela L. Rachubinski,
- Ross E. Granrath,
- María Carmona-Iragui,
- Rebecca B. Wilkerson,
- Darcy E. Kahn,
- Molishree Joshi,
- Alberto Lleó,
- Rafael Blesa,
- Juan Fortea,
- Angelo D’Alessandro,
- James C. Costello,
- Kelly D. Sullivan,
- Joaquin M. Espinosa
Affiliations
- Rani K. Powers
- Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
- Rachel Culp-Hill
- Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus
- Michael P. Ludwig
- Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
- Keith P. Smith
- Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
- Katherine A. Waugh
- Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
- Ross Minter
- Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
- Kathryn D. Tuttle
- Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
- Hannah C. Lewis
- Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
- Angela L. Rachubinski
- Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
- Ross E. Granrath
- Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
- María Carmona-Iragui
- Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autonoma de Barcelona, CIBERNED
- Rebecca B. Wilkerson
- Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus
- Darcy E. Kahn
- Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
- Molishree Joshi
- Functional Genomics Facility, University of Colorado Anschutz Medical Campus
- Alberto Lleó
- Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autonoma de Barcelona, CIBERNED
- Rafael Blesa
- Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autonoma de Barcelona, CIBERNED
- Juan Fortea
- Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autonoma de Barcelona, CIBERNED
- Angelo D’Alessandro
- Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
- James C. Costello
- Computational Bioscience Program, University of Colorado Anschutz Medical Campus
- Kelly D. Sullivan
- Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
- Joaquin M. Espinosa
- Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus
- DOI
- https://doi.org/10.1038/s41467-019-12739-9
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 11
Abstract
Down syndrome (DS) is caused by trisomy 21 (T21), but the underlying etiology of the related immune and neurological dysfunction is unclear. Here, the authors show that T21 activates the kynurenine pathway via increased interferon receptor copy number, which could contribute to DS pathophysiology.
