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A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency
Ma, Y. -Y.1; Wu, T. -F.2; Liu, Y. -P.2; Wang, Q.2; Li, X. -Y.2; Ding, Y.2; Song, J. -Q.2; Yang, Y. -L.2; Zou, L. -P.1
关键词Complex i Deficiency Mitochondrial Disorders Mitochondrial Dna Mitochondrial Respiratory Chain
刊名CLINICAL GENETICS
2015-02-01
DOI10.1111/cge.12356
87期:2页:179-184
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
资助者China Postdoctoral Science Foundation ; Ministry of Science and Technology ; Beijing Nature Science Foundation ; China Postdoctoral Science Foundation ; Ministry of Science and Technology ; Beijing Nature Science Foundation
研究领域[WOS]Genetics & Heredity
关键词[WOS]LEIGH-SYNDROME ; DISORDERS ; DISEASE
英文摘要

To investigate the clinical, enzymological and mitochondrial gene profiles of complex I deficiency in Chinese, clinical and laboratory data of the patients (79 boys, 54 girls) were retrospectively assessed. Activities of mitochondrial respiratory chain complexes in peripheral leucocytes were spectrophotometrically measured. The entire mitochondrial DNA (mtDNA) sequence was analyzed in 62 patients. Restriction fragment length polymorphism and gene sequencing analyses were performed in 15 families. Ninety-one patients had isolated complex I deficiency; 42 had combined deficiencies of complex I and other complexes. The main clinical presentations were neuromuscular disorders (107 patients) and non-neurological dysfunction (hepatopathy, renal damage and cardiomyopathy; 26 patients). In 32 of 62 patients who underwent mtDNA sequencing, 24 mutations were identified in 15 mitochondrial genes. The 12338T>C, 4833A>G and 14502T>C mutations were found in 12.9%, 11.3% and 4.8% patients, respectively. Seven patients had multiple mutations. Three novel mutations were identified. Chinese patients with complex I deficiency presented heterogeneous phenotypes and genotypes. Twenty-four mutations were identified in 15 mitochondrial genes in 51.6% patients. mtDNA mutations were more common in isolated complex I deficiency than in combined complex deficiencies. The 12338T>C, 4833A>G and 14502T>C mutations were common.

语种英语
所属项目编号2013M532107 ; 2012BAI09B04 ; 7081002
资助者China Postdoctoral Science Foundation ; Ministry of Science and Technology ; Beijing Nature Science Foundation ; China Postdoctoral Science Foundation ; Ministry of Science and Technology ; Beijing Nature Science Foundation
WOS记录号WOS:000348720600013
引用统计
被引频次:2[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/400002259/50463
专题北京大学第一临床医学院_儿科
作者单位1.Chinese Liberat Army Gen Hosp, Dept Pediat, Beijing 100853, Peoples R China
2.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Ma, Y. -Y.,Wu, T. -F.,Liu, Y. -P.,et al. A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency[J]. CLINICAL GENETICS,2015,87(2):179-184.
APA Ma, Y. -Y..,Wu, T. -F..,Liu, Y. -P..,Wang, Q..,Li, X. -Y..,...&Zou, L. -P..(2015).A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency.CLINICAL GENETICS,87(2),179-184.
MLA Ma, Y. -Y.,et al."A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency".CLINICAL GENETICS 87.2(2015):179-184.
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