Mitochondrial respiratory chain complex activity and bioenergetic alterations in human platelets derived from pre-symptomatic and symptomatic Huntington's disease carriers

Mitochondrion. 2013 Nov;13(6):801-9. doi: 10.1016/j.mito.2013.05.006. Epub 2013 May 23.


Mitochondrial dysfunction has been implicated in Huntington's disease (HD) pathogenesis. We analyzed the activity of mitochondrial complexes (Cx) I-IV, protein levels of selected Cx subunits and adenine nucleotides in platelet mitochondria from pre-symptomatic versus symptomatic HD human carriers and age-matched control individuals. Mitochondrial platelets exhibited reduced activity of citrate synthase in pre-symptomatic and Cx-I in pre-symptomatic and symptomatic HD carriers. Positive correlation between Cx activity and protein subunits was observed for Cx-I in symptomatic HD patient's mitochondria. Moreover, AMP increased in mitochondria from pre-symptomatic HD carriers. Results highlight mitochondrial changes occurring before the onset of HD clinical symptoms.

Keywords: Adenine nucleotides; Huntington disease; Mitochondria; Mitochondrial respiratory chain complexes; Mutant huntingtin; Platelet.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blood Platelets / metabolism*
  • Electron Transport*
  • Energy Metabolism
  • Female
  • Heterozygote*
  • Humans
  • Huntington Disease / metabolism*
  • Huntington Disease / pathology
  • Male
  • Middle Aged
  • Mitochondria / metabolism*