31P-NMR spectroscopy of skeletal muscle in Becker dystrophy and DMD/BMD carriers. Altered rate of phosphate transport

Abstract

Muscle energy metabolism was studied by phosphorus nuclear magnetic resonance spectroscopy (31P-NMR) in 6 patients with Becker dystrophy, and in 24 female DMD/BMD carriers (n = 18) and non-carriers (n = 6). At rest all patients showed a high Pi/PCr ratio due to low PCr and high Pi contents, and a high intracellular IpH. 31P-NMR of carriers and non-carriers did not differ from controls. In patients and carriers in-magnet exercise revealed a reduced ability to perform work and Pi/PCr ratios higher than controls for comparable relative levels of steady-state work. Post-exercise Pi recovery was found abnormal in patients and in carriers. The 31P-NMR abnormalities found in the working muscle of both BMD patients and female DMD/BMD carriers indicate a defect of phosphate metabolism that, be it primary or secondary, reflects a deficit of energy metabolism.