AI Article Synopsis
- A deficiency in erythrocyte phosphofructokinase (PFK) was found in a healthy man, with his activity at only 25% of normal levels, while his father and son had relatively higher levels of 50-55%.
- Chromatographic and immunological tests indicated a decrease in L-type PFK activity without a corresponding drop in protein levels, suggesting the mutation affects subunit stability rather than quantity.
- Despite the enzymatic deficiency leading to metabolic changes, including lower ATP levels, the individual did not experience hemolysis.
Article Abstract
A marked erythrocyte phosphofructokinase deficiency was detected in a healthy man. His enzymatic activity was only 25% that of normal controls. His father and his son had erythrocytic phosphofructokinase activities of 50-55% that of normal controls. The chromatographic separation of erythrocytic phosphofructokinase isozymes, as well as immunological studies revealed a decrease in L-type phosphofructokinase activity. The lowered erythrocytic L-type phosphofructokinase activity was not accompanied by a decreased level of L-type phosphofructokinase in proteins. The L/M subunit ratio was similar to that of normal subjects. The defect resulted from the synthesis of stable L-type mutant subunit with high electrophoretic mobility. White blood cells, which synthesize mostly the same isozyme as L-type phosphofructokinase also showed a decreased activity and a high electrophoretic mobility. In spite of this important deficiency, and of significant metabolic alterations (a slight decrease in ATP; 2,3-diphosphoglycerate; triose phosphate), hemolysis did not appear in the propositus.
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| http://dx.doi.org/10.1016/0304-4165(83)90318-5 | DOI Listing |
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