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学科主题临床医学
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
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
2013-02-01
DOI10.3109/19401736.2012.717932
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
资助者National Natural Science Foundation of China ; National Key Technology RD Program ; National Natural Science Foundation of China ; National Key Technology RD Program
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
资助者National Natural Science Foundation of China ; National Key Technology RD Program ; National Natural Science Foundation of China ; National Key Technology RD Program
WOS记录号WOS:000313279700020
Citation statistics
Cited Times:2[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/50246
Collection北京大学第一临床医学院_儿科
作者单位Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
Recommended Citation
GB/T 7714
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.
APA Ma, Yan Yan.,Wu, Tong Fei.,Liu, Yu Peng.,Wang, Qiao.,Li, Xi Yuan.,...&Yang, Yan Ling.(2013).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.MITOCHONDRIAL DNA,24(1),67-73.
MLA Ma, Yan Yan,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".MITOCHONDRIAL DNA 24.1(2013):67-73.
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