Down syndrome: Advances in molecular biology and the neurosciences

Research output: Contribution to journalArticlepeer-review

Abstract

The entire DNA sequence for human chromosome 21 is now complete, and it is predicted to contain only about 225 genes, which is approximately three-fold fewer than the number initially predicted just 10 years ago. Despite this remarkable achievement, very little is known about the mechanism(s) whereby increased gene copy number (gene dosage) results in the characteristic phenotype of Down syndrome. Although many of the phenotypic traits show large individual variation, neuromotor dysfunction and cognitive and language impairment are observed in virtually all individuals. Currently, there are no efficacious biomedical treatments for these central nervous system-associated impairments. To develop novel therapeutic strategies, the effects of gene dosage imbalance need to be understood within the framework of those critical biological events that regulate brain organization and function.

Original languageEnglish (US)
Pages (from-to)40-59
Number of pages20
JournalJournal of Developmental and Behavioral Pediatrics
Volume22
Issue number1
DOIs
StatePublished - Jan 1 2001

Keywords

  • Alzheimer's disease
  • Brain development
  • Chromosome 21
  • Cognitive impairment
  • Down syndrome
  • Gene expression
  • Neurobiology

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental and Educational Psychology
  • Psychiatry and Mental health

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