Phosphoglycerate kinase deficiency myopathy: Biochemical and immunological studies of the mutant enzyme
- 1 September 1984
- journal article
- research article
- Published by Wiley in Muscle & Nerve
- Vol. 7 (7), 542-551
- https://doi.org/10.1002/mus.880070705
Abstract
A new phosphoglycerate kinase variant (PGK New Jersey) has been purified from muscle and cultured fibroblasts of a patient with recurrent myoglobinuria. The mutant enzyme had higher than normal affinity for adenosine triphosphate (ATP) and 3‐phosphoglycerate, and a shift of the pH optimum towards the acidic side. Antibodies raised against PGK purified from normal muscle were used to evaluate the presence of immunologically cross‐reacting enzyme protein in tissues from the patient. Immunodiffusion and an antibody consumption test showed the presence of reduced amounts of cross‐reacting material in the patient's muscle. Several PGK variants have been characterized in asymptomatic individuals or in patients with hemolytic anemia. The biochemical features of PGK New Jersey, the only known variant associated with recurrent myoglobinuria, distinguish this mutant enzyme from others.This publication has 24 references indexed in Scilit:
- Phosphoglycerate kinase deficiency: Another cause of recurrent myoglobinuriaAnnals of Neurology, 1983
- The effect of aging on rat liver phosphoglycerate kinase and comparison with the muscle enzymeBiochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology, 1982
- Immunofluorescent localization of PGK-1 and PGK-2 isozymes within specific cells of the mouse testisDevelopmental Biology, 1981
- Hereditary deficiency of phosphoglycerate kinase: a new variant in erythrocytes and leucocytes, not associated with haemolytic anaemiaEuropean Journal of Clinical Investigation, 1977
- Liver 3-Phosphoglycerate Kinase. Purification and Some Molecular Properties of the Bovine-Liver EnzymeEuropean Journal of Biochemistry, 1974
- Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic diseaseThe Journal of Pediatrics, 1973
- Human Phosphoglycerate Kinase and Inactivation of the X ChromosomeScience, 1972
- Immunological studies on glycogen storage diseases type III and V. Demonstration of the presence of an immunoreactive protein in one case of muscle phosphorylase deficiencyBiochemical and Biophysical Research Communications, 1971
- Electrophoretic analysis of the major polypeptides of the human erythrocyte membraneBiochemistry, 1971
- Red cell phosphoglycerate kinase deficiencyBiochemical and Biophysical Research Communications, 1968