CNC - Center for Neuroscience and Cell Biology, University of Coimbra, Portugal.
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.
线粒体功能障碍与亨廷顿病(HD)的发病机制有关。我们分析了来自于有症状和无症状 HD 携带者以及年龄匹配的对照组个体的血小板线粒体中呼吸链复合物(Cx)I-IV 的活性、选定的 Cx 亚基蛋白水平和腺嘌呤核苷酸。线粒体血小板中柠檬酸合酶在无症状和有症状 HD 携带者中的活性降低,Cx-I 在无症状和有症状 HD 携带者中的活性降低。在有症状 HD 患者的线粒体中,Cx-I 的活性与蛋白亚基之间存在正相关。此外,来自无症状 HD 携带者的线粒体中 AMP 增加。结果强调了在 HD 临床症状出现之前发生的线粒体变化。