Evidence for apoptosis in the fetal Down syndrome brain

J Child Neurol. 2001 Jun;16(6):438-42. doi: 10.1177/088307380101600610.

Abstract

In Down syndrome, enhanced apoptosis (programmed cell death) may play a role in the pathogenesis of characteristic early mental retardation and precocious neurodegeneration of Alzheimer type. Various apoptosis-associated proteins (Bax, Bcl-2, Fas, p53, Hsp70, neuronal apoptosis inhibitory protein-like immunoreactivity) were investigated in four different cortical regions and the cerebellum of one fetal Down syndrome (35 weeks' gestation) postmortem brain sample compared with a control brain sample. The most impressive finding was an at least fivefold elevation of Bax protein together with decreased Bcl-2 values in all Down syndrome cerebral regions investigated. In addition, antiapoptotic, presumably caspase-inhibitory, principles like heat shock protein 70 and neuronal apoptosis inhibitory protein were also reduced. Whereas Fas protein, an important member of receptor-mediated apoptosis, was inconsistently altered, a rather surprising finding was reduced proapoptotic, regulatory protein p53 in four of five regions. The findings are in good agreement with the proposed role of the Bcl-2 protein family in regulating developmental (naturally occurring) apoptotic neuronal death and further suggest that developmental apoptosis may be inappropriately commandeered by so far undefined pathologic processes in Down syndrome.

MeSH terms

  • Abortion, Eugenic
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Apoptosis / genetics*
  • Brain / pathology
  • Down Syndrome / genetics*
  • Down Syndrome / pathology
  • Female
  • Gene Expression / physiology
  • Genetic Markers / genetics*
  • HSP70 Heat-Shock Proteins / genetics
  • Humans
  • Infant, Newborn
  • Nerve Tissue Proteins / genetics
  • Neuronal Apoptosis-Inhibitory Protein
  • Pregnancy
  • Prenatal Diagnosis*
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins c-bcl-2 / genetics
  • Tumor Suppressor Protein p53 / genetics
  • bcl-2-Associated X Protein
  • fas Receptor / genetics

Substances

  • BAX protein, human
  • Genetic Markers
  • HSP70 Heat-Shock Proteins
  • NAIP protein, human
  • Nerve Tissue Proteins
  • Neuronal Apoptosis-Inhibitory Protein
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins c-bcl-2
  • Tumor Suppressor Protein p53
  • bcl-2-Associated X Protein
  • fas Receptor