Mitochondriale Erkrankungen

Zusammenfassung

Mit einer Gesamtprävalenz von 1:5 000 zählen mitochondriale Erkrankungen zu den häufigsten hereditären Stoffwechselerkrankungen. In den letzten Jahren kam es zu enormen Fortschritten in der Diagnostik und im Verständnis der molekularen Mechanismen bei diesen Krankheitsbildern. Die Entwicklung ursächlicher Therapieansätze war demgegenüber lange unbefriedigend, hat aber deutlich an Dynamik gewonnen. Mit Idebenone bei Leberscher hereditärer Optikusneuropathie (LHON) ist seit 2015 das erste Medikament zur Behandlung einer mitochondrialen Erkrankung zugelassen. Zahlreiche weitere therapeutische Ansätze befinden sich in der fortgeschrittenen klinischen Entwicklung, darunter auch eine Gentherapie für LHON. Das deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET) trägt mit seinen Strukturen erheblich zu diesen Fortschritten in der mitochondrialen Medizin bei.

Summary

With a total prevalence of 1:5 000, mitochondrial diseases are among the most frequent hereditary metabolic disorders. The last years have seen enormous progress in the diagnostics and in the understanding of the molecular mechanisms of this group of disorders. This was previously not paralleled by much progress in treatment but development of therapeutic options is now catching up. With idebenone in Leber`s hereditary optic neuropathy (LHON), the first drug for a mitochondrial disorder was approved in 2015. Numerous other therapeutic approaches are in advanced clinical development, including a gene therapy for LHON. The German network for mitochondrial disorders (mitoNET) with its structures contributes considerably to this progress in mitochondrial medicine.

Schlüsselwörter

Mitochondriale Erkrankungen - LHON - Idebenone - mitoNET

Keywords

Mitochondrial disorders - LHON - idebenone - mitoNET

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