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首页> 外文期刊>Journal of neurology >Mitochondrial cytopathies.
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Mitochondrial cytopathies.

机译：线粒体细胞病变。

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摘要

Mitochondrial cytopathies represent a heterogeneous group of multisystem disorders which preferentially affect the muscle and nervous systems. They are caused either by mutations in the maternally inherited mitochondrial genome, or by nuclear DNA-mutations. Today, approximately 200 different disease causing mutations of mitochondrial DNA (mtDNA) are known, and due to the increased knowledge about nuclear genetics during the last few years, more and more nuclear mutations are being described. Owing to the non-uniform distribution of mitochondria in tissues and the co-existence of mutated and wildtype mtDNA (heteroplasmy) in these organelles, these disorders may present with a huge variety of symptoms, even if the same mutation is involved. Diagnostic investigations should include the measurement of serum and CSF lactate, neuroradiological tests and a muscle biopsy to show the characteristic ragged-red fibres and cytochrome c oxidase deficient cells and also to provide material for genetic analysis. To date, the treatment of these diseases remains supportive and should focus on typical complications such as cardiac dysrhythmia and endocrinopathy.
机译：线粒体细胞病变代表了一组异质的多系统疾病，这些疾病优先影响肌肉和神经系统。它们是由母体遗传的线粒体基因组中的突变或核DNA突变引起的。如今，已知约200种不同的引起线粒体DNA（mtDNA）突变的疾病，并且由于最近几年对核遗传学知识的不断增长，人们正在描述越来越多的核突变。由于线粒体在组织中的分布不均匀以及这些细胞器中突变型和野生型mtDNA（异质性）的共存，即使涉及相同的突变，这些疾病也可能出现多种症状。诊断研究应包括血清和CSF乳酸的测定，神经放射学检查和肌肉活检，以显示特征性的参差不齐的红色纤维和细胞色素C氧化酶缺陷细胞，并为遗传分析提供材料。迄今为止，这些疾病的治疗仍然是支持性的，应集中于典型的并发症，如心律不齐和内分泌病。

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