Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Phosphorylase isoenzymes were studied by acrylamide-slab electrophoresis in normal tissues and in the heart of a child with a fatal infantile form of myophosphorylase deficiency. Of the three bands present in normal human heart, two were missing in the patient's heart: the slow "muscle" isoenzyme and the intermediate band. Only the fast "cardiac" isoenzyme remained. When extracts of normal skeletal muscle and the patient's heart were mixed in appropriate conditions, the intermediate band reappeared in the electropherogram. Phosphorylase activity in extracts of the patient's heart was not inhibited by antibodies against purified enzyme from mature human muscle, whereas normal human heart phosphorylase was inhibited by approximately 50%. These results suggest that the intermediate band of human heart phosphorylase is a hybrid of skeletal and cardiac muscle isoenzymes. Retained activity of the cardiac isoenzyme may explain why patients genetically lacking skeletal muscle phosphorylase do not have clinical heart disease.
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PMID:Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heart. 29 91

In endomyocardial biopsies from 67 patients with various chronic heart diseases (small vessel disease, cardiomyopathies and hypertensive heart disease) the isoenzymes of Lactate Dehydrogenase (LDH) and Aspartate Aminotransferase (ASAT) and Glycogen Phosphorylase (GP) were investigated and compared with a reference group without actual morphological and functional evidence of chronic heart disease. The analyzed parameters showed characteristical alterations dependent on the degree of hypertrophy of the heart muscle cells and the stage of the disease as assessed by left ventricular enddiastolic pressure (LVEDP), ventricular kinetics, left ventricular heart mass (LVHM) and exercise electrocardiogram. The biochemical alterations found reflect different metabolic situations in the myocardium and could be useful as additional information for assessing the severity of the disease.
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PMID:Enzyme pattern in endomyocardial biopsies from patients with chronic heart diseases. 296 28