title: [Acute myocardial infarction without elevation of CK activity: analysis of CK-MM protein and gene of CK-MM].
abstract: A 56 year old female patient had acute myocardial infarction which was confirmed by autopsy. However the patient showed no elevation of CK activity in the serum. We proved the deficiency of CK-MM protein in her serum as well as in the myocardial tissues. To further elucidate the molecular mechanism we isolated and characterized genomic DNA and cDNA of CK-MM from the myocardial tissue of the patient and demonstrated the depression of mRNA of CK-MM which might be related with the deficiency of CK-MM protein. Point mutation at codon 54 [Exon 2, GAC (Asp)-->GGC(Gly)] was also demonstrated on the beta-sheet of CK-MM. Association of point mutation with depressed CK-MM is to be clarified.
authors.affiliation: Department of Clinical Pathology, Kobe City General Hospital.
authors.forename: H
authors.initials: H
authors.lastname: Yamamichi
authors.forename: S
authors.initials: S
authors.lastname: Kasakura
authors.forename: J
authors.initials: J
authors.lastname: Ohkawa
authors.forename: S
authors.initials: S
authors.lastname: Yamamori
authors.forename: R
authors.initials: R
authors.lastname: Iwasaki
mesh_terms: D001483:Base Sequence; D003402:Creatine Kinase / Q000235:genetics* / Q000378:metabolism*; D005260:Female; D006801:Humans; D007527:Isoenzymes; D008875:Middle Aged; D008969:Molecular Sequence Data; D009203:Myocardial Infarction / Q000201:enzymology* / Q000235:genetics; D009206:Myocardium / Q000201:enzymology; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D007527:Isoenzymes; D003402:Creatine Kinase