Summary
The uptake and subsequent metabolism of adenine and adenosine was studied with the intact erythrocytes of patients with myotonic dystrophy (MD). Washed erythrocytes of both controls and patients were incubated with 14C-labeled adenine or adenosine at 20°C for 5 to 120s to characterize the uptake process. No differences in the uptake process of adenine or adenosine were observed between normal and MD erythrocytes. Formation of adenine nucleotides was determined at 37° C after incubation for 30 min. Compared to controls, the incorporation of adenine into adenine nucleotides was 2.6 times higher in MD erythrocytes. This depends mainly on an increase of ATP formation. The mean ratios of ATP: ADP+AMP for normal red cells and MD erythrocytes were 0.92 and 1.39 respectively. No difference was found in the conversion of adenosine to adenine nucleotides. In spite of a normal amount of intracellular ATP a greater demand for ATP exists. This might be due to leakage of adenine nucleotides out of MD erythrocytes.
Zusammenfassung
Die Aufnahme und der Stoffwechsel von Adenin und Adenosin in Erythrocyten von Patienten mit myotoner Dystrophie (MD) wurde untersucht. Zur Charakterisierung des Aufnahmevorganges wurden gewaschene Erythrocyten von Kontrollpersonen bzw. Patienten mit 14C-markiertem Adenin oder Adenosin bei 20° C für 5 bis 120s inkubiert. Zwischen den Kontrollen und den Patienten waren keine Unterschiede nachweisbar. Nach 30 min Inkubation bei 37° C wurden die gebildeten Adeninnukleotide bestimmt. Im Vergleich zu den Kontroll-Erythrocyten wurde in den Erythrocyten der MD-Patienten Adenin um den Faktor 2.6 vermehrt in Adeninnukleotide eingebaut, wobei es zu einem Anstieg des Quotienten aus ATP: ADP+AMP von durchschnittlich 0,92 auf 1,39 kam. Adenosin wurde hingegen in den Erythrocyten beider Kollektive in gleicher Weise metabolisiert. Die Ergebnisse weisen auf keine Störung der Purintransportsysteme an Erythrocyten von MD-Patienten, lassen aber trotz normaler intraerythrocytärer ATP-Konzentration auf einen größeren Bedarf an ATP schließen, der auf einen vermehrten Austritt der Adeninnukeotide aus dem MD-Erythrocyten zurückzuführen sein könnte.
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Müller, M.M., Kuzmits, R., Frass, M. et al. Purine metabolism of erythrocytes in myotonic dystrophy. J. Neurol. 223, 59–66 (1980). https://doi.org/10.1007/BF00313140
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DOI: https://doi.org/10.1007/BF00313140