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medizinische genetik

, Volume 26, Issue 3, pp 342–345 | Cite as

Mosaike im Gehirn des Menschen

Diagnostische Relevanz in der Zukunft?
  • Ivan Y. Iourov
  • Svetlana G. Vorsanova
  • Thomas Liehr
  • Yuri B. Yurov
Schwerpunktthema: Mosaike in der humangenetischen Diagnostik

Zusammenfassung

Das gesunde menschliche Gehirn weist ein bemerkenswert hohes Maß an somatischen Zellmosaiken auf. Zum einen ist dies altersassoziiert, und darüber hinaus wurde nachgewiesen, dass stärker ausgeprägte Zellmosaike im Gehirn Grundlage für neurologische und/oder psychiatrische Störungen (z. B. Alzheimer-Krankheit oder Schizophrenie) sind bzw. damit im Zusammenhang stehen. Möglicherweise eröffnen diese neueren Erkenntnisse künftig Anwendungsmöglichkeiten für die klinische Diagnostik, z. B. in Kombination mit neuen Biomarkern. In diesem Zusammenhang könnte eine vielversprechende Perspektive die Erforschung molekularer Signalwege sein, die die Zellen vor Genom- und/oder Chromosomeninstabilität schützen könnten.

Schlüsselwörter

Aneuploidy Chromosomeninstabilität Genominstabilität Erkrankungen des Gehirns Neurologische Erkrankungen 

Mosaicism in the human brain

Possible diagnostic relevance in molecular cytogenetics of the future?

Abstract

Recently, the human brain has been found to exhibit high levels of somatic mosaicism. On the one hand this has been shown to be age associated, on the other hand mosaicism in the brain was shown to be a mechanism for neurologic and psychiatric disorders (i. e. Alzheimer’s disease and schizophrenia). Thus, a possibility to use this knowledge for the preclinical diagnosis was proposed. Since correlations between patterns of somatic mosaicism in mitotic cells and in post-mitotic neural cells have been described, one can suggest molecular cytogenetic analysis of somatic genome variations in biopsies to have potential diagnostic importance. Finally, detecting alterations to molecular pathways protecting cells from genome or chromosome instability seems to be another promising way for future diagnostic applications in brain diseases.

Keywords

Aneuploidy Chromosome instability Genome instability Brain diseases Neurologic diseases 

Notes

Einhaltung der ethischen Richtlinien

Danksagung

I.Y. Iourov, S.G. Vorsanova, T. Liehr und Yuri B. Yurov wurden unterstützt durch den DLR/BMBF (RUS 2011–2013) und der Russian Science Foundation (14-15-00411). I.Y. Iourov, S.G. Vorsanova und Yuri B. Yurov durch den RFBR Grant 12-04-00215 (Russian Federation, 2012–2014) sowie I.Y. Iourov durch einen „Grant of the Russian Federation President“ (MD- 4401.2013.7).

Interessenkonflikt

I.Y. Iourov, S.G. Vorsanova, T. Liehr und Yuri B. Yurov geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren

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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Ivan Y. Iourov
    • 1
    • 2
    • 3
  • Svetlana G. Vorsanova
    • 1
    • 2
    • 4
  • Thomas Liehr
    • 5
  • Yuri B. Yurov
    • 1
    • 2
    • 4
  1. 1.National Research Center for Mental HealthRussian Academy of Medical SciencesMoscowRussische Föderation
  2. 2.Institute of Pediatrics and Children SurgeryRussian Federation Ministry of HealthMoscowRussische Föderation
  3. 3.Department of Medical GeneticsRussian Medical Academy of Postgraduate EducationMoscowRussische Föderation
  4. 4.Moscow City University of Psychology and EducationMoscowRussische Föderation
  5. 5.Jena University Hospital, Friedrich Schiller UniversityInstitute of Human GeneticsJenaDeutschland

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