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.
Meola
G
G
Division of Neurology, San Donato Hospital, San Donato Milanese, Milan, Italy.
Tremblay
J P
JP
Sansone
V
V
Rotondo
G
G
Radice
S
S
Bresolin
N
N
Huard
J
J
Scarlato
G
G
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