Fatal infantile cytochrome c oxidase deficiency
Fatal infantile cytochrome c oxidase deficiency
复制标题
致命的婴儿细胞色素c氧化酶缺乏症
作者：
N. Bresolin;M. Zeviani;E. Bonilla;Ronald H. Miller;R. Leech;S. Shanske;M. Nakagawa;S. Dimauro
一名2个月大的男婴出现进行性全身无力、低张力和呼吸功能不全，需要辅助呼吸机。在31个半月时，他开始癫痫发作和反复肺部感染；他在7个月大时去世。血清乳酸呈慢性升高，但无氨基酸尿症。2月龄和3月龄的肌肉活检的组织化学和超微结构研究显示线粒体、脂肪和糖原过多；6月龄的第三次活检显示肌周纤维和脂肪组织明显增加。细胞色素c氧化酶活性在第一次活检中为正常的7%，在其他活检中未检测到。从死后肌肉中分离的线粒体细胞色素谱显示完全缺乏细胞色素Aa3，获得了抗正常人心脏细胞色素c氧化酶的抗体。免疫滴定和酶联免疫吸附试验(ELISA)显示患者肌肉中的免疫反应性酶蛋白减少，但肌肉线粒体提取物的免疫沉淀物的SDS-PAGE电泳示所有细胞色素C氧化酶亚基均存在。这些数据表明，一个或多个亚基的合成减少可能导致骨骼肌中正常的电泳性复合体IV的浓度显著降低。
A 2-month-old boy had progressive generalized weakness, hypotonia, and respiratory insufficiency requiring assisted ventilation. At age 31/2 months, he started having seizures and recurrent pulmonary infections; he died at age 7 months. Serum lactate was chronically elevated, but there was no aminoaciduria. Histochemical and ultrastructural studies of muscle biopsies at ages 2 and 3 months showed excessive mitochondria, lipid, and glycogen; a third biopsy at 6 months showed marked increase in perimysial fibrous and fat tissue. Cytochrome c oxidase activity was 7% of normal in the first biopsy and undetectable in the others. Cytochrome spectra of mitochondria isolated from postmortem muscle showed complete lack of cytochrome aa3 Antibodies were obtained against cytochrome c oxidase purified from normal human heart. Immunotitration and enzyme-linked immunosorbent assay (ELISA) showed decreased immunologically reactive enzyme protein in the patient's muscle, but SDS-PAGE electrophoresis of immunoprecipitates of muscle mitochondrial extracts showed the presence of all cytochrome c oxidase subunits. These data suggest that decreased synthesis of one or more subunits may result in markedly decreased concentration of electrophoretically normal complex IV in skeletal muscle.
二磷脂酰甘油是牛心细胞色素 C 氧化酶最佳活性所必需的。
DOI：
10.1073/pnas.78.3.1456
发表时间：
1981
影响因子：
11.1
作者：
Vik,SB;Georgevich,G;Capaldi,RA
通讯作者：
Capaldi,RA
DOI：
10.1073/pnas.77.11.6715
发表时间：
1980-01-01
期刊：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES
影响因子：
--
作者：
GILES, RE;BLANC, H;WALLACE, DC
通讯作者：
WALLACE, DC
线粒体肌病和乳酸性酸中毒患者缺乏泛醌细胞色素 C 还原酶。
DOI：
10.1073/pnas.80.16.5103
发表时间：
1983
影响因子：
11.1
作者：
Darley-Usmar,VM;Kennaway,NG;Buist,NR;Capaldi,RA
通讯作者：
Capaldi,RA