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Exomdiagnostik verändert die Sicht auf Mitochondriopathien

Exome diagnostics are changing our view of mitochondrial diseases

Zusammenfassung

Indem die molekulargenetische Untersuchung vieler Gene (Gen-Panels bzw. Exomanalyse) immer günstiger wird, steht deren Anwendung in der klinischen Praxis bevor. Dies wird insbesondere den Bereich solcher monogenen Erkrankungen betreffen, die stark heterogen sind, bei denen also Mutationen in vielen verschiedenen Genen zu Phänotypen führen, die klinisch nur schwer voneinander abgrenzbar sind. Ein Beispiel hierfür sind die Atmungskettendefekte. Die Exomsequenzierung ermöglicht hier ein rasches Mutationsscreening, das parallel in allen Genen abläuft, die ursächlich infrage kommen.

Abstract

With molecular-genetic diagnostics of large sets of genes (gene panels, exome sequencing) becoming less expensive, it is expected that they will be increasingly used in clinical practice. This will especially affect those monogenic diseases which are heterogenic, that is, in which mutations of many different genes result in phenotypes that are clinically difficult to distinguish from each other. Respiratory chain defects are an example of such disorders. Exome sequencing allows for rapid, simultaneous screening of all genes that come into question.

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Danksagung/Interessenkonflikt

Wir bedanken uns bei den Patienten, die Proben für Forschungszwecke zur Verfügung gestellt haben. Die Autoren werden unterstützt von den BMBF-geförderten Verbundprojekten mitoNET und E-rare (GENOMIT) sowie den EU-geförderten NGS-Projekten (FP7) GUVADIS und ESGI. Der korrespondierende Autor gibt für sich und seine Koautoren an, dass kein Interessenkonflikt besteht.

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Correspondence to T. Meitinger.

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Prokisch, H., Oexle, K. & Meitinger, T. Exomdiagnostik verändert die Sicht auf Mitochondriopathien. medgen 24, 183–186 (2012). https://doi.org/10.1007/s11825-012-0348-6

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Schlüsselwörter

  • Mitochondriopathien
  • Atmungskette
  • Genetische Beratung
  • DNA-Sequenzierung
  • Exom

Keywords

  • Mitochondrial diseases
  • Respiratory chain
  • Genetic counseling
  • DNA sequencing
  • Exome