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学科主题: 临床医学
题名:
Analysis of the Mitochondrial Complex I-V Enzyme Activities of Peripheral Leukocytes in Oxidative Phosphorylation Disorders
作者: 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
发表日期: 2011-08-01
DOI: 10.1177/0883073811399905
卷: 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
所属项目编号: 30872794 ; 2006BAI05A07
项目资助者: National Nature Science Foundation of China ; National Key Technology R and D Programme
WOS记录号: WOS:000293085400007
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/49974
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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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

Recommended Citation:
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.
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