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Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/74066

Type: Journal article
Title: BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down Syndrome patients
Author: Tlili, A.
Hoischen, A.
Ripoll, C.
Benabou, E.
Badel, A.
Ronan, A.
Touraine, R.
Grattau, Y.
Stora, S.
Van Bon, B.
de Vries, B.
Menten, B.
Bockaert, N.
Gecz, J.
Antonarakis, S.
Campion, D.
Potier, M.C.
Blehaut, H.
Delabar, J.M.
Janel, N.
Citation: Molecular Neurobiology, 2012; 46(2):297-303
Publisher: Humana Press Inc
Issue Date: 2012
ISSN: 0893-7648
1559-1182
Statement of
Responsibility: 
Asma Tlili, Alexander Hoischen, Clémentine Ripoll, Eva Benabou, Anne Badel, Anne Ronan, Renaud Touraine, Yann Grattau, Samantha Stora, Bregje van Bon, Bert de Vries, Björn Menten, Nele Bockaert, Joseph Gecz, Stylianos E. Antonarakis, Dominique Campion, Marie-Claude Potier, Henri Bléhaut, Jean-Maurice Delabar and Nathalie Janel
Abstract: Down syndrome or trisomy 21 is the most common genetic disorder leading to mental retardation. One feature is impaired short- and long-term spatial memory, which has been linked to altered brain-derived neurotrophic factor (BDNF) levels. Mouse models of Down syndrome have been used to assess neurotrophin levels, and reduced BDNF has been demonstrated in brains of adult transgenic mice overexpressing Dyrk1a, a candidate gene for Down syndrome phenotypes. Given the link between DYRK1A overexpression and BDNF reduction in mice, we sought to assess a similar association in humans with Down syndrome. To determine the effect of DYRK1A overexpression on BDNF in the genomic context of both complete trisomy 21 and partial trisomy 21, we used lymphoblastoid cell lines from patients with complete aneuploidy of human chromosome 21 (three copies of DYRK1A) and from patients with partial aneuploidy having either two or three copies of DYRK1A. Decreased BDNF levels were found in lymphoblastoid cell lines from individuals with complete aneuploidy as well as those with partial aneuploidies conferring three DYRK1A alleles. In contrast, lymphoblastoid cell lines from individuals with partial trisomy 21 having only two DYRK1A copies displayed increased BDNF levels. A negative correlation was also detected between BDNF and DYRK1A levels in lymphoblastoid cell lines with complete aneuploidy of human chromosome 21. This finding indicates an upward regulatory role of DYRK1A expression on BDNF levels in lymphoblastoid cell lines and emphasizes the role of genetic variants associated with psychiatric disorders.
Keywords: Down syndrome; DYRK1A; BDNF; lymphoblastoid cell lines; mRNA; protein
Rights: © Springer Science+Business Media, LLC 2012
RMID: 0020122022
DOI: 10.1007/s12035-012-8284-7
Appears in Collections:Paediatrics publications
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