Ichihara Y, Sasaki J, Kikuchi H, Ozawa M, Goto Y, Nonaka I
First Department of Anesthesiology, Toho University School of Medicine, Tokyo.
Masui. 2000 Apr;49(4):404-6.
In Japan, the rate of Ca-induced Ca release (CICR) using skinned fibers of skeletal muscle has been employed as a diagnostic test for malignant hyperthermia (MH) susceptibility, since most of the typical fulminant MH patients showed an enhancement of CICR rate. Recently the Ca releasing channel responsible for the CICR was reported to be mainly the ryanodine binding Ca protein which was identified as the causative site of MH muscle according to recent genetic studies. Among patients with enhanced CICR rate, one point mutation for Arg 2434 His was recognized in a family. Although this site is related to the central core disease (CCD), this pathological change could not be observed in this patient. This is the first report describing a gene mutation in a MH family identified in Japan.
在日本，利用骨骼肌去皮纤维的钙诱导钙释放（CICR）速率已被用作恶性高热（MH）易感性的诊断测试，因为大多数典型的暴发性MH患者显示出CICR速率增强。最近有报道称，负责CICR的钙释放通道主要是ryanodine结合钙蛋白，根据最近的基因研究，该蛋白被确定为MH肌肉的致病位点。在CICR速率增强的患者中，一个家族中发现了Arg 2434 His的单点突变。虽然该位点与中央核心病（CCD）有关，但在该患者中未观察到这种病理变化。这是日本首次报道在一个MH家族中发现基因突变。
