Excitotoxic neuronal death and the pathogenesis of Huntington's disease

Arch Med Res. 2008 Apr;39(3):265-76. doi: 10.1016/j.arcmed.2007.11.011.

Abstract

Huntington's disease (HD) is a neurodegenerative hereditary illness originated by the mutation of the gene encoding the huntingtin-protein (htt). Mutated htt (mhtt) is characterized by an increased number of glutamine repeats in the N-terminal end; when 40 or more glutamine residues are present, the disease is manifested. Expression of mhtt leads to the selective death of the medium spiny neurons (MSN) in the neostriatum, resulting in the appearance of generalized involuntary movements, the main phenotypic alteration of HD. The relationship between the expression of mhtt and the death of the MSN is not fully understood. Nonetheless, according to experimental evidence indicating that MSN are selectively vulnerable to the toxicity of glutamate (excitotoxicity) or its analogues, excitotoxic neuronal death is suggested to be involved in neurodegeneration associated with HD. Support for this hypothesis comes from studies in HD postmortem tissue and transgenic mice models, suggesting a correlation between mhtt expression and altered glutamatergic neurotransmission, mainly altered conductance of the N-methyl-D-aspartate (NMDA) glutamate receptor subtype and decreased levels of glutamate transporters. On the other hand, alterations in energy metabolism are well documented in HD patients, which might facilitate excitotoxicity. Throughout this review we will discuss relevant evidence suggesting that altered glutamatergic neurotransmission plays a role in neurodegeneration associated with HD, as well as the possible contribution of deficient energy metabolism to the development of an excitotoxic cell death cascade in MSN. We show data supporting protection by energy substrates against neuronal damage in a rat model combining energy deficit and glutamate toxicity.

Publication types

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

MeSH terms

  • Animals
  • Biological Transport
  • Humans
  • Huntington Disease / chemically induced
  • Huntington Disease / metabolism
  • Huntington Disease / pathology*
  • Neurons / drug effects
  • Neurons / metabolism
  • Neurons / pathology*
  • Neurotoxins / metabolism*
  • Neurotoxins / toxicity
  • Quinolinic Acid / metabolism
  • Quinolinic Acid / toxicity
  • Receptors, Glutamate / metabolism

Substances

  • Neurotoxins
  • Receptors, Glutamate
  • Quinolinic Acid