RGD Reference Report - A gel-based proteomic method reveals several protein pathway abnormalities in fetal Down syndrome brain. - Rat Genome Database

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Pathways
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A gel-based proteomic method reveals several protein pathway abnormalities in fetal Down syndrome brain.

Authors: Sun, Yanwei  Dierssen, Mara  Toran, Nuria  Pollak, Daniela D  Chen, Wei-Qiang  Lubec, Gert 
Citation: Sun Y, etal., J Proteomics. 2011 Apr 1;74(4):547-57. doi: 10.1016/j.jprot.2011.01.009. Epub 2011 Jan 22.
RGD ID: 12859084
Pubmed: PMID:21262400   (View Abstract at PubMed)
DOI: DOI:10.1016/j.jprot.2011.01.009   (Journal Full-text)

A large series of protein pathway components have been shown to be dysregulated in Down syndrome (DS) brain. No information about pathomechanisms linked to the trisomic state can be obtained from adult DS brain, however, as neurodegeneration occurs from the fourth decade. The aim of the study was to search for protein dysregulation in fetal DS brain before neurodegenerative changes are observed. Proteins were extracted from fetal DS and control frontal cortex, run on 2-DE, followed by quantification of protein spots with subsequent nano-ESI-LC-MS/MS analysis using an ion trap. Aberrant expression of proteins tropomodulin-2, tubulin alpha 1A chain, and alpha-internexin may indicate disturbed synaptic plasticity; fatty acid binding protein 7 suggests impaired maintenance of neuroepithelial cells; and creatine kinase B may reflect defective energy metabolism. RNA binding protein 4B derangement may represent impaired splicing, altered retrotransposon gag domain-containing protein 1 levels may be pointing to altered retrotransposition, and level changes of the potassium-chloride transporter solute carrier family 12 member 7 may lead to impaired ion fluxes with electrophysiological consequences. Taken together, aberrant protein levels from several pathways in fetal DS are challenging as well as fertilizing the area of research and providing the basis for additional neurochemical and functional studies.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Down syndrome  IEP 12859084protein:decreased expression:brain:RGD 
Down syndrome  ISOTUBA1A (Homo sapiens)12859084; 12859084protein:decreased expression:brain:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tuba1a  (tubulin, alpha 1A)

Genes (Mus musculus)
Tuba1a  (tubulin, alpha 1A)

Genes (Homo sapiens)
TUBA1A  (tubulin alpha 1a)


Additional Information