Molecular changes in fetal Down syndrome brain

J Neurochem. 2003 Mar;84(5):895-904. doi: 10.1046/j.1471-4159.2003.01614.x.

Abstract

Trisomy of human chromosome 21 is a major cause of mental retardation and other phenotypic abnormalities collectively known as Down syndrome. Down syndrome is associated with developmental failure followed by processes of neurodegeneration that are known to supervene later in life. Despite a widespread interest in Down syndrome, the cause of developmental failure is unclear. The brain of a child with Down syndrome develops differently from that of a normal one, although characteristic morphological differences have not been noted in prenatal life. On the other hand, a review of the existing literature indicates that there are a series of biochemical alterations occurring in fetal Down syndrome brain that could serve as substrate for morphological changes. We propose that these biochemical alterations represent and/or precede morphological changes. This review attempts to dissect these molecular changes and to explain how they may lead to mental retardation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Apoptosis
  • Brain / embryology
  • Brain / metabolism*
  • Brain / pathology
  • Cytoskeletal Proteins / metabolism
  • Down Syndrome / complications
  • Down Syndrome / pathology
  • Down Syndrome / physiopathology*
  • Fetal Diseases / pathology
  • Fetal Diseases / physiopathology*
  • Gene Dosage
  • Humans
  • Intellectual Disability / etiology
  • Morphogenesis
  • Signal Transduction
  • Transcription, Genetic

Substances

  • Cytoskeletal Proteins