Severe ultrastructural mitochondrial changes in lymphoblasts homozygous for Huntington disease mutation

Mech Ageing Dev. 2006 Feb;127(2):217-20. doi: 10.1016/j.mad.2005.09.010. Epub 2005 Nov 9.

Abstract

Mutated huntingtin is expressed in nervous and non nervous system included lymphoblasts. Eneregetic metabolism is impaired in Huntington's disease (HD) and other neurodegenerative diseases. Human HD lymphoblasts have provided clear-cut data on mitochondnal disruption. Here we report morphological, morphometric and membrane potential differences in mitochondria from lymphoblasts obtained from patients homozygous and heterozygous for the CAG mutation, and controls. Homozygotes, who despite a similar age at onset show a more aggressive phenotype than heterozygotes, had giant mitochondria and a reduced membrane potential. We argue that early mitochondrial impairment at basal level may affect the severity of HD progression in patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line, Transformed
  • Energy Metabolism / genetics
  • Homozygote
  • Humans
  • Huntington Disease / genetics
  • Huntington Disease / metabolism
  • Huntington Disease / pathology*
  • Lymphocytes / metabolism
  • Lymphocytes / ultrastructure*
  • Membrane Potentials
  • Mitochondria / genetics
  • Mitochondria / metabolism
  • Mitochondria / ultrastructure*
  • Mutation*
  • Phenotype