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学科主题临床医学
Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome
Yang, YL; Sun, F; Zhang, Y; Qian, N; Yuan, Y; Wang, ZX; Qi, Y; Xiao, JX; Wang, XY; Qi, ZY; Zhang, YH; Jiang, YW; Bao, XH; Qin, J; Wu, XR
关键词Leigh syndrome mitochondrial genes cytochrome c oxidase deficiency SURF1 gene
刊名CHINESE MEDICAL JOURNAL
2006-03-05
119期:5页:373-377
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Medicine, General & Internal
研究领域[WOS]General & Internal Medicine
关键词[WOS]CYTOCHROME-C-OXIDASE ; SURF1 GENE-MUTATIONS ; MITOCHONDRIAL-DNA ; DEFICIENCY ; CHILDREN ; DISEASE ; GC/MS
英文摘要

Background Leigh syndrome is an inherited neurodegenerative disease that emerges in infancy and childhood and presents with a clinically heterogeneous variety of neuromuscular and non-neuromuscular disorders. It can result from the inheritance of mutations in either nuclear or mitochondrial DNA. In the current study, we performed a retrospective study in 65 patients in order to investigate the clinical and genetic characteristics of Leigh syndrome in Chinese patients.

Methods Sixty-five unrelated cases (35 men and 30 women) who were hospitalized in the past 12 years were reviewed. Diagnosis was based on both the clinical presentation and the characteristic neuropathologic findings of bilateral symmetric necrotizing lesions in the basal ganglia and brain stem as detected using cranial computed tomography (CT) scan or magnetic resonance imaging (MRI). The differential diagnosis of organic acidurias and fatty acid beta-oxidation defects were performed. Specific point mutations and deletions in mitochondrial DNA (T8993G; T8993C, T9176C, A8344G, A3243G) were screened by PCR-restriction analysis and Southern blot. The SURF1 gene was sequenced. Skeletal muscle biopsies were performed in 17 (26.2%) of the patients. The diagnosis was confirmed by autopsy in 6 (9.2%) patients.

Results The patients had various forms of metabolic encephalomyopathy. Fifty-nine (90.8%) of the patients had the typical neuroradiological features of Leigh syndrome, including symmetrical necrotizing lesions scattered within the basal ganglia, thalamus and brain stem. Twenty (30.8%) patients were confirmed by genetic, biochemical analysis and autopsy. Specific point mutations in mitochondrial DNA were found in 5 cases (7.7%). Of these, the A8344G mutation was detected in 2 patients. The T8993G, T8993C, and A3243G point mutations were identified in 3 other patients, respectively. SURF1 mutations associated with cytochrome c oxidase deficiency were identified in 8 (12.3%) families by DNA sequencing. A G604C mutation was identified in 6 (9.2%) patients. The genotypes of 52 patients remained unknown.

Conclusions Leigh syndrome presents as a diverse array of clinical features and can result from specific mutations in nuclear or mitochondrial DNA. In this study, SURF1 mutations associated with cytochrome c oxidase deficiency were identified in 8 (12.3%) out of 65 patients with Leigh syndrome. It indicates that SURF1 mutations might be a common cause of Leigh syndrome in China. The etiology of Leigh syndrome in Chinese patients represents a persistent challenge to clinicians.

语种英语
WOS记录号WOS:000235990600004
引用统计
被引频次:23[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/400002259/61225
专题北京大学第一临床医学院_儿科
作者单位1.Peking Univ, Hosp 1, Cent Lab, Beijing 100034, Peoples R China
2.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
3.Peking Univ, Hosp 1, Dept Neurol, Beijing 100034, Peoples R China
4.Peking Univ, Hosp 1, Dept Med Radiol, Beijing 100034, Peoples R China
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GB/T 7714
Yang, YL,Sun, F,Zhang, Y,et al. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome[J]. CHINESE MEDICAL JOURNAL,2006,119(5):373-377.
APA Yang, YL.,Sun, F.,Zhang, Y.,Qian, N.,Yuan, Y.,...&Wu, XR.(2006).Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.CHINESE MEDICAL JOURNAL,119(5),373-377.
MLA Yang, YL,et al."Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome".CHINESE MEDICAL JOURNAL 119.5(2006):373-377.
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