PMID- 22669612
OWN - NLM
STAT- MEDLINE
DCOM- 20130227
LR  - 20231213
IS  - 1559-1182 (Electronic)
IS  - 0893-7648 (Linking)
VI  - 46
IP  - 2
DP  - 2012 Oct
TI  - BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell 
      lines from Down syndrome patients.
PG  - 297-303
LID - 10.1007/s12035-012-8284-7 [doi]
AB  - 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.
FAU - Tlili, Asma
AU  - Tlili A
AD  - Unit of Functional and Adaptive Biology, Sorbonne Paris Cite, Univ. Paris 
      Diderot, EAC-CNRS 4413, 75013 Paris, France.
FAU - Hoischen, Alexander
AU  - Hoischen A
FAU - Ripoll, Clementine
AU  - Ripoll C
FAU - Benabou, Eva
AU  - Benabou E
FAU - Badel, Anne
AU  - Badel A
FAU - Ronan, Anne
AU  - Ronan A
FAU - Touraine, Renaud
AU  - Touraine R
FAU - Grattau, Yann
AU  - Grattau Y
FAU - Stora, Samantha
AU  - Stora S
FAU - van Bon, Bregje
AU  - van Bon B
FAU - de Vries, Bert
AU  - de Vries B
FAU - Menten, Bjorn
AU  - Menten B
FAU - Bockaert, Nele
AU  - Bockaert N
FAU - Gecz, Joseph
AU  - Gecz J
FAU - Antonarakis, Stylianos E
AU  - Antonarakis SE
FAU - Campion, Dominique
AU  - Campion D
FAU - Potier, Marie-Claude
AU  - Potier MC
FAU - Blehaut, Henri
AU  - Blehaut H
FAU - Delabar, Jean-Maurice
AU  - Delabar JM
FAU - Janel, Nathalie
AU  - Janel N
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120605
PL  - United States
TA  - Mol Neurobiol
JT  - Molecular neurobiology
JID - 8900963
RN  - 0 (Brain-Derived Neurotrophic Factor)
RN  - EC 2.7.10.1 (Protein-Tyrosine Kinases)
RN  - EC 2.7.11.1 (Protein Serine-Threonine Kinases)
SB  - IM
MH  - Animals
MH  - Brain-Derived Neurotrophic Factor/blood/*metabolism
MH  - Cell Line
MH  - Chromosome Aberrations
MH  - Chromosomes, Human, Pair 21/genetics
MH  - Down Syndrome/blood/*enzymology
MH  - Humans
MH  - Lymphocytes/*enzymology
MH  - Mice
MH  - Middle Aged
MH  - Protein Serine-Threonine Kinases/*metabolism
MH  - Protein-Tyrosine Kinases/*metabolism
MH  - Dyrk Kinases
EDAT- 2012/06/07 06:00
MHDA- 2013/02/28 06:00
CRDT- 2012/06/07 06:00
PHST- 2012/04/06 00:00 [received]
PHST- 2012/05/24 00:00 [accepted]
PHST- 2012/06/07 06:00 [entrez]
PHST- 2012/06/07 06:00 [pubmed]
PHST- 2013/02/28 06:00 [medline]
AID - 10.1007/s12035-012-8284-7 [doi]
PST - ppublish
SO  - Mol Neurobiol. 2012 Oct;46(2):297-303. doi: 10.1007/s12035-012-8284-7. Epub 2012 
      Jun 5.