title: [Human creatine kinase deficiency].
abstract: We describe a 56-year-old woman hospitalized under a diagnosis of acute myocardial infarction without an increase in serum creatine kinase(CK) activity during the clinical course. The patient had had no previous muscular symptoms. CK-M protein in the myocardial tissue of the patient was substantially lower(103 +/- 7 ng/mg protein) than that in control myocardial tissue(35,800 +/- 2860 ng/mg protein). Immunoreactive CK-M in the patient tissue sample was 0.3% of the value for the control sample. CK-M mRNA was 53-fold less in the patient sample compared with the control. This very low expression of CK-M mRNA was considered to be the primary reason for CK-M deficiency. Direct sequencing demonstrated a point mutation at residue 54 in exon2, which was specific for the patient. There were no other abnormalities found in the CK-M gene of the patient. This report identifies a molecular abnormality in human CK deficiency and discusses the physiologic relevance of CK-M.
authors.affiliation: Clinical Laboratory Medicine, West Kobe Medical Center, Kobe 651-2273.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yamamichi
authors.forename: Jiro
authors.initials: J
authors.lastname: Ohkawa
mesh_terms: D003402:Creatine Kinase / Q000172:deficiency* / Q000235:genetics; D052279:Creatine Kinase, MB Form; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000172:deficiency* / Q000235:genetics; D008875:Middle Aged; D009203:Myocardial Infarction / Q000175:diagnosis / Q000235:genetics; D009206:Myocardium / Q000201:enzymology*; D017354:Point Mutation
chemical_list: D007527:Isoenzymes; D003402:Creatine Kinase; D052279:Creatine Kinase, MB Form