Abstract
Antibodies were made against acid α-glucosidase (α-glu) from human liver. This enzyme is missing in patients with Pompe's disease (PD). Fibroblasts from patients with PD and controls were labelled in culture with 3-H-leucine for a 24 hour period. Afterwards the fibroblasts were harvested and immunoprecipitation was carried out employing the mentioned antibody and Protein A - Sepharose Cl-4B gel. The resultant immunoprecipitates were analysed by SDS gel electrophoresis. It could be demonstrated that α-glu deficient fibroblasts form polypeptides which can be precipitated with antibodies against α-glu. These polypeptides show the same electrophoretic mobility as subunits of α-glu in controls. "Chase experiments" (overdose of unlabelled leucine after labelling with 3-H-leucine) showed that these polypeptides disappear rapidly in fibroblasts of patients with PD. By multiplying the percentage of 3-H-leucine incorporated in α-glu with the specific enzyme activity, a value is formed which seems characteristic for the variant forms of PD. It may be speculated that with the help of 1. specific antibodies, 2. Protein A - Sepharose Cl-4B gel and 3. radioactive labelled cells many enzyme defects cannot only be diagnosed more correctly but also characterized and localized within the cell.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Von Ruecker, A., Rahm, P., Haas, B. et al. A new possibility for the prenatal diagnosis of metabolic diseases. Example: Pompe's Disease: 2. Pediatr Res 14, 167 (1980). https://doi.org/10.1203/00006450-198002000-00029
Issue Date:
DOI: https://doi.org/10.1203/00006450-198002000-00029