Suppressing aberrant GluN3A expression rescues synaptic and behavioral impairments in Huntington's disease models

Nat Med. 2013 Aug;19(8):1030-8. doi: 10.1038/nm.3246. Epub 2013 Jul 14.

Abstract

Huntington's disease is caused by an expanded polyglutamine repeat in the huntingtin protein (HTT), but the pathophysiological sequence of events that trigger synaptic failure and neuronal loss are not fully understood. Alterations in N-methyl-D-aspartate (NMDA)-type glutamate receptors (NMDARs) have been implicated. Yet, it remains unclear how the HTT mutation affects NMDAR function, and direct evidence for a causative role is missing. Here we show that mutant HTT redirects an intracellular store of juvenile NMDARs containing GluN3A subunits to the surface of striatal neurons by sequestering and disrupting the subcellular localization of the endocytic adaptor PACSIN1, which is specific for GluN3A. Overexpressing GluN3A in wild-type mouse striatum mimicked the synapse loss observed in Huntington's disease mouse models, whereas genetic deletion of GluN3A prevented synapse degeneration, ameliorated motor and cognitive decline and reduced striatal atrophy and neuronal loss in the YAC128 Huntington's disease mouse model. Furthermore, GluN3A deletion corrected the abnormally enhanced NMDAR currents, which have been linked to cell death in Huntington's disease and other neurodegenerative conditions. Our findings reveal an early pathogenic role of GluN3A dysregulation in Huntington's disease and suggest that therapies targeting GluN3A or pathogenic HTT-PACSIN1 interactions might prevent or delay disease progression.

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Animals
  • Behavior, Animal*
  • Carrier Proteins / metabolism
  • Cell Death / drug effects
  • Cytoskeletal Proteins
  • Disease Models, Animal
  • Gene Deletion
  • HEK293 Cells
  • Humans
  • Huntington Disease / metabolism*
  • Huntington Disease / pathology*
  • Huntington Disease / physiopathology
  • Immunoprecipitation
  • Intracellular Signaling Peptides and Proteins
  • Mice
  • Motor Activity / drug effects
  • Mutant Proteins / chemistry
  • Mutant Proteins / metabolism
  • Mutant Proteins / toxicity
  • Neostriatum / metabolism
  • Neostriatum / pathology
  • Nerve Tissue Proteins / chemistry
  • Nerve Tissue Proteins / metabolism
  • Neurons / drug effects
  • Neurons / metabolism
  • Neurons / pathology
  • Neuropeptides / metabolism
  • Phosphoproteins / metabolism
  • Protein Binding / drug effects
  • Protein Structure, Quaternary
  • Receptors, N-Methyl-D-Aspartate / metabolism*
  • Rotarod Performance Test
  • Synapses / drug effects
  • Synapses / metabolism*
  • Synapses / ultrastructure

Substances

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • Cytoskeletal Proteins
  • GRIN3A protein, human
  • GluN3A protein, mouse
  • Intracellular Signaling Peptides and Proteins
  • Mutant Proteins
  • Nerve Tissue Proteins
  • Neuropeptides
  • Pacsin1 protein, mouse
  • Pacsin1 protein, rat
  • Phosphoproteins
  • Receptors, N-Methyl-D-Aspartate