Purine metabolism of erythrocytes in myotonic dystrophy

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 degrees 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 degrees 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.