摘要
线粒体疾病是一组与氧化磷酸化(OXPHOS)即最重要的细胞能源来源异常相关的异质性疾病。线粒体综合征和确定的致病基因的数量不断增加。作为整体来说,它们是在任何年龄段最常见的人类遗传性疾病。呼吸链是由双基因组控制和这些疾病的分子遗传学的唯一代谢途径,因为线粒体DNA和核DNA之间密切的相互作用的存在而变得复杂。在儿童期和婴儿期,临床表现不同于成人发病时的线粒体病,其表型更为严重,常涉及到大脑,经常表现为多系统紊乱,很少表现为单一性肌病。核基因的突变比成年期更频繁。婴儿时期表型主要呈现在遗传缺陷和致力于方便诊断检查的相关生化数据。
关键词: Encephalomyocardiopathy,利氏疾病,脑白质病,线粒体消耗综合症,儿童线粒体疾病,呼吸链缺陷
Current Molecular Medicine
Title:Mitochondrial Diseases in Childhood
Volume: 14 Issue: 8
Author(s): A. Ardissone, E. Lamantea, F. Invernizzi, M. Zeviani, S. Genitrini, I. Moroni and G. Uziel
Affiliation:
关键词: Encephalomyocardiopathy,利氏疾病,脑白质病,线粒体消耗综合症,儿童线粒体疾病,呼吸链缺陷
摘要: Mitochondrial disorders are a group of heterogeneous diseases associated with abnormalities of the oxidative phosphorylation (OXPHOS), the most important source of energy for the cell. The number of mitochondrial syndromes and of identified causative genes is constantly increasing. Taken as a whole they are among the most frequent genetic diseases in humans at any age. The respiratory chain is the only metabolic pathway under double genome control and molecular genetics of these disorders is complicated by the existence of strict interactions between mitochondrial DNA and nuclear DNA. In childhood and infancy, clinical presentation differs from mitochondrial disorders with adult onset. The phenotypes are much more severe, often involving brain, frequently presenting as multisystemic disorders and seldom as isolated myopathy. Mutations in nDNA are more frequent than in adulthood.
The major phenotypes presenting in infancy are here correlated with genetic defects and biochemical data with the aim to facilitate diagnosis work-up.
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Cite this article as:
Ardissone A., Lamantea E., Invernizzi F., Zeviani M., Genitrini S., Moroni I. and Uziel G., Mitochondrial Diseases in Childhood, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010155317
DOI https://dx.doi.org/10.2174/1566524014666141010155317 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
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