Reduced striatal dopamine underlies the attention system dysfunction in neurofibromatosis-1 mutant mice

Hum Mol Genet. 2010 Nov 15;19(22):4515-28. doi: 10.1093/hmg/ddq382. Epub 2010 Sep 7.

Abstract

Learning and behavioral abnormalities are among the most common clinical problems in children with the neurofibromatosis-1 (NF1) inherited cancer syndrome. Recent studies using Nf1 genetically engineered mice (GEM) have been instructive for partly elucidating the cellular and molecular defects underlying these cognitive deficits; however, no current model has shed light on the more frequently encountered attention system abnormalities seen in children with NF1. Using an Nf1 optic glioma (OPG) GEM model, we report novel defects in non-selective and selective attention without an accompanying hyperactivity phenotype. Specifically, Nf1 OPG mice exhibit reduced rearing in response to novel objects and environmental stimuli. Similar to children with NF1, the attention system dysfunction in these mice is reversed by treatment with methylphenidate (MPH), suggesting a defect in brain catecholamine homeostasis. We further demonstrate that this attention system abnormality is the consequence of reduced dopamine (DA) levels in the striatum, which is normalized following either MPH or l-dopa administration. The reduction in striatal DA levels in Nf1 OPG mice is associated with reduced striatal expression of tyrosine hydroxylase, the rate-limited enzyme in DA synthesis, without any associated dopaminergic cell loss in the substantia nigra. Moreover, we demonstrate a cell-autonomous defect in Nf1+/- dopaminergic neuron growth cone areas and neurite extension in vitro, which results in decreased dopaminergic cell projections to the striatum in Nf1 OPG mice in vivo. Collectively, these data establish abnormal DA homeostasis as the primary biochemical defect underlying the attention system dysfunction in Nf1 GEM relevant to children with NF1.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Attention Deficit Disorder with Hyperactivity / genetics*
  • Attention*
  • Brain / metabolism
  • Child
  • Corpus Striatum / metabolism
  • Dopamine / genetics
  • Dopamine / metabolism*
  • Genes, Neurofibromatosis 1
  • Humans
  • Levodopa / genetics
  • Levodopa / metabolism
  • Methylphenidate / metabolism
  • Methylphenidate / pharmacology
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mice, Mutant Strains
  • Mice, Transgenic
  • Motor Activity / genetics
  • Neurofibromatosis 1 / enzymology
  • Neurofibromatosis 1 / genetics*
  • Neurofibromatosis 1 / metabolism*
  • Neurofibromin 1 / genetics
  • Neurofibromin 1 / metabolism
  • Neurons / metabolism
  • Optic Nerve Glioma / genetics
  • Optic Nerve Glioma / metabolism
  • Substantia Nigra / metabolism

Substances

  • Neurofibromin 1
  • Methylphenidate
  • Levodopa
  • Dopamine