Summary: We used a double labeling technique to search for molecular defects in two fibroblast strains obtained from patients with Pompe's disease. Analysis of the double labeled subcellular fractions by sodium dodecyl sulfate (SDS) electrophoresis did not reveal any abnormalities except in the “mitochondrial-lysosomal” fraction. In this fraction ratio deviations indicated that in Pompe's disease there was a significant decrease in counts of a protein with molecular weight of about 29,000. After solubilization by freeze-thawing this protein was shown to have an isoelectric point of 7.9 in contrast to the α-glucosidase which focused at about pH 4.7. Two-stage gel studies demonstrated an estimated 90% reduction of this protein in Pompe's disease. Two-stage studies of acid α-glucosidase did not show any abnormal ratios of leucine incorporation. Similar although quantitatively less pronounced results were obtained in the study of skin fibroblasts from a patient with adult glycogen storage disease type II.
Speculation: The deficient basic protein with minimum molecular weight of 29,000 is structurally unrelated to acid glucosidase and represents a “new” molecular defect in type II glycogenosis.
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Pena, S., Quilliam, N., Hamerton, J. et al. Searching for Molecular Abnormalities in Genetic Diseases by the Use of a Double Labeling Technique. II. Deficiency of a Basic Protein in Fibroblasts of Patients with Pompe's Disease. Pediatr Res 12, 894–898 (1978). https://doi.org/10.1203/00006450-197809000-00002
- Double labeling
- biochemical genetics
- inborn errors of metabolism
- Pompe's disease