臨床酵素学の進歩−血清酵素異常症へのアプローチ(5)

CK 欠損症

山　道　　　宏*1　大　川　二　朗*2
　　　　　　　　　　　　　　　　　　　　　　
Human Creatine Kinase Deficiency

Hiroshi YAMAMICHI, MT*1 and Jiro OHKAWA, MD*2

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±7ng/mg protein) than that in control myocardial tissue(35800±2860ng/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.
[Rinsho Byori 50 : 576〜583, 2002]

*1Clinical Laboratory Medicine, West Kobe Medical Center, Kobe 651-2273

【Key Words】CK isoenzyme(CK アイソエンザイム)，genetic(遺伝)，CK-M deficiency(CK-M 欠損)，a point mutation(点突然変異)，mRNA suppression(mRNA 抑制)

*1西神戸医療センター臨床検査技術部医師会センター(〒651-2273 神戸市西区糀台5-7-1)
*2兵庫県立成人病センター検査部(〒673-8558 明石市北王子町13-70)