Muscle glucose-6-phosphate dehydrogenase deficiency: restoration of enzymatic activity in hybrid myotubes.
A high level of glucose-6-phosphate dehydrogenase (G6PD) activity was observed in myoblasts and myotubes from normal human and mouse cell cultures. However, only a residual amount of activity was observed in myoblasts and myotubes obtained from G6PD-deficient patients (G6PD Mediterranean). Hybrids were formed by the fusion of normal (from human and mouse) and G6PD-deficient myoblasts (from the patients). These hybrids contained a high level of G6PD activity. Hoechst staining permitted to confirm that the enzymatic activity was not restrained to a domain near the competent nuclei. These results suggest that myoblast transplantation could be used to restore normal enzymatic activity in metabolic myopathies.
Division of Neurology, San Donato Hospital, San Donato Milanese, Milan, Italy.
G
G
Meola
J P
JP
Tremblay
V
V
Sansone
G
G
Rotondo
S
S
Radice
N
N
Bresolin
J
J
Huard
G
G
Scarlato
D000328:Adult; D000818:Animals; D002478:Cells, Cultured; D004789:Enzyme Activation; D005954:Glucosephosphate Dehydrogenase / Q000096:biosynthesis*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology*; D006801:Humans; D006822:Hybrid Cells / Q000201:enzymology*; D051379:Mice; D008870:Microtubules / Q000201:enzymology; D024510:Muscle Development; D009132:Muscles / Q000196:embryology / Q000201:enzymology* / Q000648:ultrastructure
D005954:Glucosephosphate Dehydrogenase