Study on the erythrocytes from myotonic dystrophy with multi-nuclear NMR

We have studied the water permeability through membranes, the function of the Na pump, and glucose metabolism of erythrocytes of patients with myotonic muscular dystrophy (MyD) using 1H--, 23Na, and 13C-NMR techniques. A significant decrease in water permeability was recognized in the MyD erythrocyte membrane, and impaired Na pumping was suspected to be correlated with the former biochemical abnormalities in band III protein of MyD erythrocyte membrane. Significant acceleration of glycolysis in the erythrocyte for the first 160 minutes was also recognized in MyD; however, the production of lactate showed no difference between MyD and controls. The increased glucose uptake in MyD may be compensatory to the diminished pumping mechanism, but further information, such as inorganic phosphate permeability and the activity of the rate-limiting enzyme of erythrocyte glycolysis, is needed.