31P-NMR spectroscopy of skeletal muscle in Becker dystrophy and DMD/BMD carriers. Altered rate of phosphate transport.
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.
Barbiroli
B
B
Cattedra di Biologia Molecolare dell'Università di Bologna, Italy.
Funicello
R
R
Iotti
S
S
Montagna
P
P
Ferlini
A
A
Zaniol
P
P
D000293:Adolescent; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D003402:Creatine Kinase / Q000097:blood; D016189:Dystrophin / Q000096:biosynthesis / Q000235:genetics; D004734:Energy Metabolism; D015444:Exercise; D005260:Female; D006579:Heterozygote; D006801:Humans; D006863:Hydrogen-Ion Concentration; D009682:Magnetic Resonance Spectroscopy; D008875:Middle Aged; D009132:Muscles / Q000737:chemistry* / Q000378:metabolism; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism; D010710:Phosphates / Q000378:metabolism
D016189:Dystrophin; D010710:Phosphates; D003402:Creatine Kinase