Bovine glycogenosis type II: The molecular defect in shorthorn cattle

• Published in: Neuromuscular disorders : NMD Vol. 4; no. 1; pp. 39 - 48
• Main Authors: Palmer, D.G., Dorling, P.R., Howell, J.McC
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 1994
• Subjects: acid α-glucosidase; acid α-glucosidase precursor; alpha-Glucosidases - biosynthesis; alpha-Glucosidases - immunology; alpha-Glucosidases - metabolism; Animals; Antibodies, Monoclonal - biosynthesis; Antibodies, Monoclonal - immunology; Blotting, Western; Cattle; Cattle Diseases - genetics; Cells, Cultured; Cross Reactions; Culture Techniques; Electrophoresis, Polyacrylamide Gel; Fibroblasts - metabolism; Generalized glycogenosis type II; Glycogen Storage Disease Type II - genetics; Glycogen Storage Disease Type II - immunology; Glycogen Storage Disease Type II - veterinary; Hydrogen-Ion Concentration; Immunohistochemistry; Mice; Mice, Inbred C57BL - immunology; monoclonal antibody; Muscles - enzymology; muscular dystrophy; polyclonal antibody; Pompe's disease; Precipitin Tests; Protein Precursors - immunology; Protein Precursors - metabolism; pulse and chase; Shorthorn cattle; Pompe's disease; muscular dystrophy; acid α-glucosidase; acid α-glucosidase precursor; Generalized glycogenosis type II; polyclonal antibody; Shorthorn cattle; pulse and chase; monoclonal antibody
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/0960-8966(94)90046-9

The molecular defect in Shorthorn cattle affected with glycogenosis type II was studied. Polyclonal and monoclonal antibodies specific for bovine skeletal muscle acid α-glucosidase were raised and used to study the molecular and biochemical defect in seven affected animals. Cultured normal bovine fibroblasts pulsed and chased with [ 3H] leucine produced a 130 kDa precursor form of acid α-glucosidase which was processed via several 100 kDa intermediate forms to the 65 kDa mature form within 26 h. Fibroblasts from affected animals were labelled in vitro and were shown to produce a cross-reactive protein which was identified as the precursor form of the enzyme. The mature form of the enzyme was not found. The precursor form of the enzyme was demonstrated in Western blots of muscle tissue extracts from affected animals. Glycogenosis type II in Shorthorn and Brahman cattle must be caused by a different, independent mutation, since Brahman cattle lack the cross-reactive protein for acid α-glucosidase.