Document Detail

Creatine kinase gene mutation in a patient with muscle creatine kinase deficiency.
MedLine Citation:
PMID:  11673364     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: We describe a 56-year-old woman admitted to the hospital with a diagnosis of acute myocardial infarction without an increase of serum creatine kinase (CK) activity during her clinical course. She died on the 11th hospital day, and the diagnosis was confirmed by autopsy. The patient had had no previous muscular symptoms. METHODS: Expression of the CK-muscle (CK-M) protein in cardiac tissue was examined by immunoblotting and immunochemical staining. CK-M mRNA expression was estimated by semiquantitative reverse transcription-PCR. Gene structure of CK-M was determined by Southern blotting and direct sequencing of 2251 bp. Existence of a point mutation in the CK-M gene was examined by restriction fragment length polymorphism analysis of PCR products (PCR-RFLP) in the patient and in 108 controls. RESULTS: CK-M protein in the myocardial tissue of the patient was substantially lower (103 +/- 7 ng/mg protein) than 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 revealed a point mutation at residue 54 in exon 2, which was specific for the patient. No other abnormalities were found in the CK-M gene of the patient. CONCLUSIONS: This report identifies a molecular abnormality in human CK deficiency and discusses the physiologic relevance of CK-M.
H Yamamichi; S Kasakura; S Yamamori; R Iwasaki; T Jikimoto; S Kanagawa; J Ohkawa; S Kumagai; M Koshiba
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical chemistry     Volume:  47     ISSN:  0009-9147     ISO Abbreviation:  Clin. Chem.     Publication Date:  2001 Nov 
Date Detail:
Created Date:  2001-10-23     Completed Date:  2001-11-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9421549     Medline TA:  Clin Chem     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1967-73     Citation Subset:  IM    
Department of Clinical Pathology, Kobe City General Hospital, 4-6 Minatojima-Nakamachi, Chuo-ku, Kobe 650-0046, Japan.
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MeSH Terms
Blotting, Southern
Creatine Kinase / deficiency,  genetics*
Creatine Kinase, MM Form
Fatal Outcome
Isoenzymes / deficiency,  genetics*
Middle Aged
Myocardial Infarction / diagnosis
Myocardium / enzymology
Point Mutation
Polymorphism, Restriction Fragment Length
Reverse Transcriptase Polymerase Chain Reaction
Reg. No./Substance:
0/Isoenzymes; EC Kinase; EC Kinase, MM Form

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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