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Creatine Kinase Gene Mutation in a Patient with Muscle Creatine Kinase Deficiency

¹ Department of Clinical Pathology, Kobe City General Hospital, 4-6 Minatojima-Nakamachi, Chuo-ku, Kobe 650-0046, Japan.

² Department of Gene Analysis, Mitsubishi Kagaku Bio-Clinical Laboratories, Inc., 3-30-1, Shimura, Itabashi-Ku, Tokyo 175-0081, Japan.

³ Department of Clinical and Laboratory Medicine, Kobe University School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.

⁴ Department of Pathology, Hyogo Medical Center for Adults, 13-70 Kitaoji, Akashi, Hyogo 673-0021, Japan.

^aAuthor for correspondence. Fax 81-78-382-6209; e-mail mkoshiba{at}med kobe-u.ac.jp

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.

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				L. M. Brewster, G. Mairuhu, N. R. Bindraban, R. P. Koopmans, J. F. Clark, and G. A. van Montfrans Creatine Kinase Activity Is Associated With Blood Pressure Circulation, November 7, 2006; 114(19): 2034 - 2039. [Abstract] [Full Text] [PDF]