Serum CK isoenzyme - Gene analysis of hyperCK-BB patient -

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Creatine kinase (CK) plays an important role in energy supply in muscle contraction. CK has three isoenzymes, CK-MM, CK-MB, and CK-BB in cytoplasm, and one isoenzyme, mCK in mitochondria. CK-MB is analyzed in clinical laboratory as an indicator for cardiac injury, and CK-BB is analyzed as an indicator for brain damage or adenocarcinoma. Abnormal high level of CK-BB, 37%, was found in 15-year boy, and his elder sister had similar high level of CK-BB, 47%. They had no cardiac injury or brain damage and carcinoma. Gene analysis of their blood was performed and no abnormal gene was detected. We performed screening tests for detecting an abnormal high level of CK.BB and/or CK.B activity. CK-B activity was measured by immunoinhibition method. Molecular weight of CK was measured by thin-layer gel-filtration method and activation energy was measured for distinguished abnormal CK from CK-linked immunoglobulin or mCK. We measured CK-B activity in 3,015 patients serum. Two-hundred eighty seven patients had abnormal high level of CKB/T-CK, above 0.1. According to their chief complaints and other clinical tests reveled 231 patients of cardiac injury, 15 of thyroid diseases, 15 of brain damage, 9 of malignant tumor, 9 of infant, and 12 patients had no other diseases or damage. We could not find out any abnormal CK-B needed for gene analysis.