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DOI: 10.1055/a-0884-4517
Aktuelle Aspekte bei mitochondrialen Erkrankungen
Current aspects in mitochondrial diseasesPublication History
Publication Date:
12 June 2019 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00034916/201906/lookinside/thumbnails/10.1055-a-0884-4517-1.jpg)
ZUSAMMENFASSUNG
Die Fortschritte in der Molekularbiologie haben in den letzten Jahren zu großen Fortschritten im molekularen Verständnis, in der Diagnostik und in der Therapie mitochondrialer Erkrankungen geführt. Insbesondere durch die Methode des Next-Generation-Sequencing sind Defekte in mehr als 350 Genen identifiziert worden, die mitochondriale Erkrankungen verursachen können. Eine exakte molekulare Diagnostik ist dabei Voraussetzung für die individuelle genetische Beratung der betroffenen Familien, auch hinsichtlich neuer reproduktiver Optionen. Das verbesserte Verständnis der molekularen Pathogenese hat darüber hinaus zu pathophysiologisch begründeten Therapieansätzen geführt: Die therapeutische Ära der mitochondrialen Medizin hat begonnen.
In diesem Übersichtsartikel werden ausgewählte aktuelle Aspekte der mitochondrialen Medizin aus dem Bereich der Grundlagenforschung, der Prävention, der Diagnostik und der Therapie vorgestellt.
ABSTRACT
Recent advances in molecular biology have led to major advances in molecular understanding, diagnostics and therapy of mitochondrial diseases. In particular, the method of Next Generation Sequencing was key to identify defects in more than 350 genes that can cause mitochondrial diseases. Exact molecular diagnosis is a prerequisite for individual genetic counselling of the affected families, also regarding new reproductive options. Improved understanding of molecular pathogenesis has also paved the way to pathophysiological based therapeutic approaches: the therapeutic era of mitochondrial medicine has begun.
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