title: Mitochondrial respiratory chain complex activity and bioenergetic alterations in human platelets derived from pre-symptomatic and symptomatic Huntington's disease carriers.
abstract: 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.
authors.affiliation: CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Portugal.
authors.forename: Ana C
authors.initials: AC
authors.lastname: Silva
authors.forename: Sandra
authors.initials: S
authors.lastname: Almeida
authors.forename: Mário
authors.initials: M
authors.lastname: Laço
authors.forename: Ana I
authors.initials: AI
authors.lastname: Duarte
authors.forename: Joana
authors.initials: J
authors.lastname: Domingues
authors.forename: Catarina R
authors.initials: CR
authors.lastname: Oliveira
authors.forename: Cristina
authors.initials: C
authors.lastname: Januário
authors.forename: A Cristina
authors.initials: AC
authors.lastname: Rego
mesh_terms: D000328:Adult; D001792:Blood Platelets / Q000378:metabolism*; D004579:Electron Transport; D004734:Energy Metabolism; D005260:Female; D006579:Heterozygote; D006801:Humans; D006816:Huntington Disease / Q000378:metabolism* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000378:metabolism*
keywords: Adenine nucleotides; Huntington disease; Mitochondria; Mitochondrial respiratory chain complexes; Mutant huntingtin; Platelet