Defective Synthesis of Glycerophosphorylcholine in Murine Muscular Dystrophy; the Primary Molecular Lesion?

Activities of the rate-limiting enzymes of the cytidine pathway for the synthesis of phosphatidylcholine and phosphatidylethanolamine are negligible in differentiated mouse gastrocnemius, whereas that of the respective proposed de novo glycerophosphodiester pathways is high in this muscle. Rates of de novo glycerophosphorylcholine synthesis in dystrophic mouse gastrocnemius are about half that of the wild-type homozygotes, whereas that of the heterozygotes is near the mean of the two homozygous groups. These results suggest that defective de novo synthesis of glycerophosphorylcholine is the primary lesion in murine dy muscular dystrophy.