Zusammenfassung
Die Erbsubstanz aller Lebewesen besteht aus DNA („desoxyribonucleic acid“). Jede Zelle unseres Körpers enthält die gleiche genetische Ausstattung. In embryonalen Stammzellen ist eine gleichbleibende Anzahl Gene aktiv, und die Zellen sind identisch in ihrem Aufbau und ihrer Funktion. Sobald sich aber unterschiedlich spezialisierte Zellen entwickeln (Differenzierung), unterscheiden sie sich deutlich voneinander, wie z. B. Leber- von den Nervenzellen. Diese Unterschiede gehen nicht auf Änderungen in der Sequenz der DNA zurück, sondern darauf, dass in verschiedenen Zellen unterschiedliche Gene aktiv sind. Das bedeutet, dass ganz gezielt Informationen in der einen Zelle unterdrückt werden müssen, die in anderen wiederum aktiv sind und so verhindert wird, dass z. B. Muskelzellen Haare hervorbringen oder Gehirnzellen Leberenzyme produzieren. Wie kommt es, dass Gene in differenzierten Zellen ein gewebetypisches Set an Genen aktivieren, während sie in anderen Zellen abgeschaltet sind?
Abstract
The human genome comprises approximately 30000 genes needed for the formation and function of approximately 1 Million proteins in the human body. Differentiation leads to the deactivation of genes that are not needed in the specific tissues or cells. To regulate the cell specific gene expression in normal cells epigenetic modifications work in concert with genetic mechanisms. In contrast to genetic mutations, epigenetics encompasses the wide range of heritable changes in gene expression that do not result from alteration in the DNA sequence itself. A dysregulation of epigenetic modifications results in diseases such as cancer or autoimmune diseases. Since these epigenetic modifications of the DNA and the histones are reversible they are good targets for novel therapeutic intervention.
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Jüngel, A., Gay, S. Epigenetik in der Rheumatologie. Z. Rheumatol. 70, 205–212 (2011). https://doi.org/10.1007/s00393-010-0689-y
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DOI: https://doi.org/10.1007/s00393-010-0689-y