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Analysis of the Mitochondrial Complex I-V Enzyme Activities of Peripheral Leukocytes in Oxidative Phosphorylation Disorders
Ma, Yan-Yan1; Zhang, Xue-Lin2; Wu, Tong-Fei1; Liu, Yu-Peng1; Wang, Qiao1; Zhang, Yao1; Song, Jin-Qing1; Wang, Yu-Jie1; Yang, Yan-Ling1
关键词Oxidative Phosphorylation Mitochondrial Disease Leigh Syndrome Respiratory Chain Complex Deficiency Leukocytes
刊名JOURNAL OF CHILD NEUROLOGY
2011-08-01
DOI10.1177/0883073811399905
26期:8页:974-979
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology ; Pediatrics
研究领域[WOS]Neurosciences & Neurology ; Pediatrics
关键词[WOS]CHINESE PATIENTS ; LEIGH-SYNDROME ; DEFICIENCIES ; FIBROBLASTS ; CHILDREN ; TISSUES ; DISEASE
英文摘要

Mitochondrial oxidative phosphorylation defects are a common cause of mitochondrial diseases, which are characterized by multiorgan involvement and clinically heterogeneous manifestations. Diagnosis is difficult because of the lack of clinically feasible methods. In this study, mitochondrial complex I-V enzyme activity was measured in 64 patients with suspected mitochondrial disease and 200 healthy controls. Spectrophotometric assay was used for the analysis of mitochondrial complex I-V enzyme activity in peripheral leukocytes. Diagnosis was based on clinical presentation, magnetic resonance imaging (MRI), muscle pathology, and point mutation screening in mitochondrial DNA. The differential diagnosis of aminoacidopathies, organic acidurias, and fatty acid beta-oxidation defects was made. Thirty-five patients (54.7%) were diagnosed with Leigh syndrome based on characteristic brain MRI. Complex enzyme activity in controls was found to be stable. A deficiency in the oxidative phosphorylation was found in 29 patients (45.3%). Twenty (31.2%) patients had isolated complex defects, complex I deficiency (n = 2, 3.1%), complex II deficiency (n = 3, 4.7%), complex III deficiency (n = 5, 7.8%), complex IV deficiency (n = 5, 7.8%), and complex V deficiency (n 5, 7.8%). Nine patients were found to have combined deficiencies, 3 (4.7%) had combined deficiencies of complex I and IV, 2 (3.1%) had combined deficiencies of complex III and V, and 2 (3.1%) had a combined deficiency of complex I and V. In conclusion, the peripheral leukocyte oxidative phosphorylation enzyme activity assay was found to be a reliable method for the diagnosis of mitochondrial diseases.

语种英语
WOS记录号WOS:000293085400007
项目编号30872794 ; 2006BAI05A07
资助机构National Nature Science Foundation of China ; National Key Technology R and D Programme
引用统计
被引频次:12[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/49974
专题北京大学第一临床医学院_儿科
北京大学第二临床医学院_儿科
北京大学口腔医学院_义齿加工中心
作者单位1.Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China
2.Capital Inst Phys Educ, Beijing, Peoples R China
推荐引用方式
GB/T 7714
Ma, Yan-Yan,Zhang, Xue-Lin,Wu, Tong-Fei,et al. Analysis of the Mitochondrial Complex I-V Enzyme Activities of Peripheral Leukocytes in Oxidative Phosphorylation Disorders[J]. JOURNAL OF CHILD NEUROLOGY,2011,26(8):974-979.
APA Ma, Yan-Yan.,Zhang, Xue-Lin.,Wu, Tong-Fei.,Liu, Yu-Peng.,Wang, Qiao.,...&Yang, Yan-Ling.(2011).Analysis of the Mitochondrial Complex I-V Enzyme Activities of Peripheral Leukocytes in Oxidative Phosphorylation Disorders.JOURNAL OF CHILD NEUROLOGY,26(8),974-979.
MLA Ma, Yan-Yan,et al."Analysis of the Mitochondrial Complex I-V Enzyme Activities of Peripheral Leukocytes in Oxidative Phosphorylation Disorders".JOURNAL OF CHILD NEUROLOGY 26.8(2011):974-979.
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