Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: Challenging the gene dosage effect hypothesis (Part II)

M. S. Cheon, M. Bajo, S. H. Kim, J. O. Claudio, A. K. Stewart, D. Patterson, W. D. Kruger, H. Kondoh, Gert Lubec

Research output: Contribution to journalArticle

38 Scopus citations

Abstract

Down syndrome (DS) is the most common genetic cause of mental retardation. To explain the impact of extra chromosome 21 in the pathology of DS, gene dosage effect hypothesis has been proposed, but several investigators including our group have challenged this hypothesis. Although analysis of the sequence of chromosome 21 has been essentially completed, the molecular and biochemical mechanisms underlying the pathology are still unknown. We therefore investigated expression levels of six proteins encoded on chromosome 21 (HACS1, DYRK1A, αA-crystallin, FTCD, GARS-AIRS-GART, and CBS) in fetal cerebral cortex from DS and controls at 18-19 weeks of gestational age using Western blot analysis. Protein expression of HACS1 was significantly and remarkably decreased in DS, and the expression levels of five proteins were comparable between DS and controls suggesting that the gene dosage effect hypothesis is not sufficient to fully explain the DS phenotype. We are continuing to quantify proteins whose genes are encoded on chromosome 21 in order to provide a better understanding of the pathobiochemistry of DS at the protein level.

Original languageEnglish (US)
Pages (from-to)119-125
Number of pages7
JournalAmino Acids
Volume24
Issue number1-2
DOIs
StatePublished - Mar 2003

Keywords

  • AlphaA-crystallin
  • CBS
  • Chromosome 21
  • DYRK1A
  • Down syndrome
  • FTCD
  • GARS-AIRS-GART
  • HACS1

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Organic Chemistry

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    Cheon, M. S., Bajo, M., Kim, S. H., Claudio, J. O., Stewart, A. K., Patterson, D., Kruger, W. D., Kondoh, H., & Lubec, G. (2003). Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain: Challenging the gene dosage effect hypothesis (Part II). Amino Acids, 24(1-2), 119-125. https://doi.org/10.1007/s00726-002-0337-1