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Mitochondriale Erkrankungen

Mitochondrial diseases

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Zusammenfassung

Mitochondriale Erkrankungen (ME) werden durch Mutationen der mitochondrialen DNA oder der nukleären DNA verursacht. ME betreffen besonders Gewebe mit hohem Energiebedarf. Die häufigsten mitochondrialen Erkrankungen sind die Lebersche hereditäre Optikusneuropathie (LHON), die chronisch progressive externe Ophthalmoplegie (CPEO) und die mitochondriale Enzephalomyopathie mit Laktatazidose und schlaganfallähnlichen Episoden (MELAS). Die Therapie der ME umfasst die Überbrückung von Atmungskettendefekten, die Verbesserung des mitochondrialen Stoffwechsels, die Supplementation fehlender Faktoren sowie symptomatische Therapien. Erste gentherapeutische Ansätze zur kausalen Therapie sind in der klinischen Entwicklung. Dieser Artikel bietet eine Einführung zu den ME, eine Auswahl der wichtigsten Krankheitsbilder sowie einen Überblick über etablierte und innovative Therapieansätze.

Abstract

Mitochondrial diseases (MD) are caused by mutations in the mitochondrial DNA or nuclear DNA. The clinical manifestation is often most severe in tissues with high energy demands. The most common MDs are Leber’s hereditary optic neuropathy (LHON), chronic progressive external ophthalmoplegia (CPEO) and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). Therapeutic approaches for MD include bridging of respiratory chain defects, pharmacological stimulation of mitochondrial metabolism, supplementation of deficient factors and symptomatic treatment. Initial gene therapeutic approaches for causal treatment have already reached the clinical development stage. This article provides an introduction to MD, a summary of the most important syndromes and an overview over established and innovative therapeutic approaches.

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Authors and Affiliations

  1. Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik, Klinikum der Universität München, Ziemssenstr. 1, 80336, München, Deutschland

    Florentine Radelfahr & Thomas Klopstock

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  1. Florentine Radelfahr
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  2. Thomas Klopstock
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Correspondence to Florentine Radelfahr.

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Interessenkonflikt

Die Autoren erklären, dass sie sich bei der Erstellung des Beitrags von keinen wirtschaftlichen Interessen haben leiten lassen. T. Klopstock gibt an, dass er Forschungsgelder, Reisekosten, Vortrags- und Beratungshonorare von den Firmen Santhera Pharmaceuticals und GenSight Biologics erhalten hat, deren Produkte im Artikel direkt oder indirekt genannt werden. F. Radelfahr gibt keine Interessenkonflikte an.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren.

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Radelfahr, F., Klopstock, T. Mitochondriale Erkrankungen. Nervenarzt 90, 121–130 (2019). https://doi.org/10.1007/s00115-018-0666-2

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