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学科主题: 临床医学
题名:
A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency
作者: 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
发表日期: 2015-02-01
DOI: 10.1111/cge.12356
卷: 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
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
项目资助者: China Postdoctoral Science Foundation ; Ministry of Science and Technology ; Beijing Nature Science Foundation
WOS记录号: WOS:000348720600013
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/50463
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.Chinese Liberat Army Gen Hosp, Dept Pediat, Beijing 100853, Peoples R China
2.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Recommended Citation:
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.
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