Zusammenfassung
Zelluläre DNA ist ständig Mutagenen ausgesetzt. Die Fähigkeit einer Zelle DNA-Schäden wieder zu reparieren ist notwendig zur Aufrechterhaltung ihrer Funktionen und Verhinderung einer malignen Transformation. Bakterielle DNA-Reparaturmechanismen sind gut charakterisiert — über menschliche Zellen steht ein detailliertes Wissen noch aus. Der Zusammenhang zwischen Exposition mit dem Mutagen UV-Strahlung und Hautkarzinogenese ist gut etabliert. Dies wird besonders deutlich bei der autosomal rezessiv vererbten, DNA-Reparatur-Defekten, zu Hautmalignomen neigenden Erkrankung Xeroderma pigmentosum (XP). In letzter Zeit sind in den Bemühungen die XP Defekte zu charakterisieren große Fortschritte gemacht worden. Weitere Erkrankungen mit nachgewiesenen oder vermuteten DNA-Reparaturdefekten sind das Cockayne Syndrom, die Trichothiodystrophie, das Dysplastische Nävus Syndrom, die Chromosomenbruchsyndrome, das Werner Syndrom und das Basalzellnävussyndrom. Wir messen DNA-Reparatur mit Hilfe von Plasmid Vektoren. Dabei wird die Fähigkeit von Zellen gemessen verschiedenste DNA-Schäden auf transfizierter Plasmid DNA zu reparieren. Wir hoffen in Zukunft diese Assays für die Diagnostik von DNA-Reparaturdefekten anbieten zu können.
Summary
Cellular DNA is continuously exposed to mutagens. The ability of a cell to repair DNA damage is necessary to maintain its functions and to prevent malignant transformation. DNA repair mechanisms are well characterized in bacteria, but not in human cells. The connection between exposure to the mutagen UV light and skin carcinogenesis is well established and clearly demonstrated in the autosomal-recessive, DNA repair deficient, skin cancer-prone disorder xeroderma pigmentosum (XP). Recently, progress was made in characterizing the defects of XP. Further diseases with proven or suspected DNA repair defects are Cockayne syndrome, trichothiodystrophy, dysplastic nevus syndrome, chromosome breakage syndromes, Werner syndrome, and basal cell nevus syndrome. We are using plasmid vectors to measure DNA repair, assessing the ability of cells to repair different kinds of DNA damage on transfected plasmid DNA. In the future, we hope to offer these assays for the routine laboratory diagnosis of DNA repair defects.
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© 1992 Springer-Verlag Berlin Heidelberg
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Rünger, T.M. (1992). Neuere Erkenntnisse über die Rolle der DNA-Reparatur in der Entstehung von Hautkarzinomen. In: Burg, G., Hartmann, A.A., Konz, B. (eds) Onkologische Dermatologie. Fortschritte der operativen und onkologischen Dermatologie, vol 7. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-77690-8_2
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