Myotonic muscular dystrophy: Calcium-dependent phosphatidate metabolism in the erythrocyte membrane

Abstract

It has been suggested that the erythrocytes of myotonic dystrophy (MyD) patients have a decreased calcium-stimulated phosphatidic acid (PA) accumulation. This could be the result of a defect in the calcium-stimulated hydrolysis of the polyphosphoinositides (calcium-dependent phosphodiesterase) or in the subsequent formation of PA from its precursors (diacylglycerol kinase). In vitro assays were established for both enzymes in erythrocyte membranes. Calcium-dependent phosphodiesterase activity was assayed with both endogenous 32P-labeled erythrocyte diphosphoinositide and triphosphoinositide and with the same phospholipids isolated from rat brain. No significant differences in activity were found between MyD patients and normal controls with either method of substrate preparation. No difference in diglyceride kinase activity was found between ghosts prepared from MyD patients and normal controls. Thus, there were no differences in either of the membrane-associated enzymes of phosphatidic acid metabolism.