Benecke R, Strümper P, Weiss H
Neurologische Klinik, Heinrich-Heine-Universität, Düsseldorf, Federal Republic of Germany.
Ann Neurol. 1992 Nov;32(5):683-6. doi: 10.1002/ana.410320512.
It has been suggested that dystonia is caused by an autosomal gene with reduced penetrance and a consequent biochemical abnormality affecting cell activity within the basal ganglia. No consistent biochemical disturbance has been identified. In the present study, activities of the mitochondrial electron transfer complexes were measured in platelets of 31 patients with idiopathic dystonia. Enzyme assays of these patients were compared to measurements in 28 control subjects. A significant decrease of complex I activity was observed in the majority of the patients, whereas the activities of other electron transfer complexes were normal. The severity of the complex I defect was more pronounced in patients with the segmental or generalized form than in those with focal dystonia. Complex I activity was not age dependent in the patients or control subjects. Although the electron pathway in complex I is disturbed in patients with idiopathic dystonia, complex I protein content seems to be normal. Whether abnormalities of complex I activity play a role in the pathogenesis of idiopathic dystonia remains to be determined.
有人提出，肌张力障碍是由常染色体基因引起的，该基因外显率降低，进而导致影响基底神经节内细胞活动的生化异常。但尚未发现一致的生化紊乱情况。在本研究中，对31例特发性肌张力障碍患者的血小板中线粒体电子传递复合体的活性进行了测量。将这些患者的酶测定结果与28名对照受试者的测量结果进行了比较。在大多数患者中观察到复合体I活性显著降低，而其他电子传递复合体的活性正常。节段性或全身性肌张力障碍患者的复合体I缺陷比局灶性肌张力障碍患者更为明显。复合体I活性在患者或对照受试者中与年龄无关。尽管特发性肌张力障碍患者中复合体I的电子通路受到干扰，但复合体I的蛋白质含量似乎正常。复合体I活性异常是否在特发性肌张力障碍的发病机制中起作用仍有待确定。
