Defective cerebellar response to mitogenic Hedgehog signaling in Down [corrected] syndrome mice

Proc Natl Acad Sci U S A. 2006 Jan 31;103(5):1452-6. doi: 10.1073/pnas.0510750103. Epub 2006 Jan 23.

Abstract

Trisomy 21 is the cause of Down [corrected] syndrome (DS) which is characterized by a number of phenotypes, including a brain which is small and hypocellular compared to that of euploid individuals. The cerebellum is disproportionately reduced. Ts65Dn mice are trisomic for orthologs of about half of the genes on human chromosome 21 and provide a genetic model for DS. These mice display a number of developmental anomalies analogous to those in DS, including a small cerebellum with a significantly decreased number of both granule and Purkinje cell neurons. Here we trace the origin of the granule cell deficit to precursors in early postnatal development, which show a substantially reduced mitogenic response to Hedgehog protein signaling. Purified cultures of trisomic granule cell precursors show a reduced but dose-dependent response to the Sonic hedgehog protein signal in vitro, demonstrating that this is a cell-autonomous deficit. Systemic treatment of newborn trisomic mice with a small molecule agonist of Hedgehog pathway activity increases mitosis and restores granule cell precursor populations in vivo. These results demonstrate a basis for and a potential therapeutic approach to a fundamental aspect of CNS pathology in DS.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Aneuploidy
  • Animals
  • Brain / growth & development*
  • Cell Proliferation
  • Central Nervous System / metabolism
  • Cerebellum / cytology
  • Cerebellum / metabolism*
  • Disease Models, Animal
  • Dose-Response Relationship, Drug
  • Down Syndrome / metabolism*
  • Hedgehog Proteins
  • Hippocampus / metabolism
  • Image Processing, Computer-Assisted
  • Mice
  • Mitosis
  • Neurons / metabolism
  • Phenotype
  • Signal Transduction
  • Time Factors
  • Trans-Activators / genetics
  • Trans-Activators / metabolism*
  • Trisomy
  • beta-Galactosidase / metabolism

Substances

  • Hedgehog Proteins
  • SHH protein, human
  • Trans-Activators
  • beta-Galactosidase