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学科主题: 临床医学
题名:
Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency
作者: Ma, Yan Yan; Wu, Tong Fei; Liu, Yu Peng; Wang, Qiao; Li, Xi Yuan; Zhang, Yao; Song, Jin Qing; Wang, Yu Jie; Yang, Yan Ling
关键词: Mitochondrial disorders ; Leigh syndrome ; respiratory chain complex I deficiency
刊名: MITOCHONDRIAL DNA
发表日期: 2013-02-01
DOI: 10.3109/19401736.2012.717932
卷: 24, 期:1, 页:67-73
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: MTDNA MUTATION ; DISEASE ; GENE ; FIBROBLASTS ; TISSUES ; MELAS
英文摘要:

Mitochondrial respiratory chain complex I enzyme deficiency is the most commonly seen mitochondrial respiratory chain disorder. Although screening and diagnostic methods are available overseas, clinically feasible diagnostic methods have not yet been established in China. In this study, four Chinese boys with Leigh syndrome due to complex I deficiency were diagnosed by mitochondrial respiratory chain enzyme assay and DNA analysis using peripheral blood leukocytes. Four patients were admitted at the age of 5-14 years because of unexplained progressive neuromuscular symptoms, including motor developmental delay or regression, weakness, and seizures. Their cranial magnetic resonance imaging revealed typical finding as Leigh syndrome. Peripheral leukocyte mitochondrial respiratory chain complex I activities were found decreased to 9.6-33.1 nmol/min/mg mitochondrial protein(control 44.0 +/- 5.4 nmol/min/mg). The ratios of complex I to citrate synthase activity were also decreased (8.9-19.8% in patients vs. control 48 +/- 11%). Three mtDNA mutations were identified from three out of four patients, supporting the diagnosis of complex I deficiency. Point mutations m. 10191T>C in mitochondrial ND3 gene, m. 13513G>A in ND5 gene and m. 14,453G>A in ND6 gene were detected in three patients.

语种: 英语
所属项目编号: 30872794 ; 2006BAI05A07
项目资助者: National Natural Science Foundation of China ; National Key Technology RD Program
WOS记录号: WOS:000313279700020
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/50246
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: Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Recommended Citation:
Ma, Yan Yan,Wu, Tong Fei,Liu, Yu Peng,et al. Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency[J]. MITOCHONDRIAL DNA,2013,24(1):67-73.
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