Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation
Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation
复制标题
诊断为家族特异性兰尼碱受体基因 1 型突变的恶性高热易感性
DOI：
10.1007/s00540-007-0575-1
复制
发表时间：
2008
影响因子：
2.8
通讯作者：
I. Nishino
中科院分区：
文献类型：
--
作者：
Takahiro Tanabe;M. Fukusaki;Y. Terao;K. Yamashita;K. Sumikawa;K. Mukaida;Carlos A Ibarra;I. Nishino
恶性高热（malignant hyperthermia，MH）是一种骨骼肌钙调节的常染色体显性遗传疾病，在日本，钙诱导的钙释放率（calcium-induced calcium release，CICR）已被用作MH易感性的诊断试验。Ryanodine受体（RYR 1），编码骨骼肌肌浆网的主要钙释放通道，已被证明是突变的MH家系的数量。我们在一名MH发作患者及其家人中检测到了加速的CICR和/或RYR 1突变。在患者及其父亲中发现了加速CICR和RYR 1突变（c.14512C>G，p.L4838V）。在他的兄弟和儿子身上也发现了MH致病突变（c.14512C>G，p.L4838V）（导致在没有CICR测试的情况下诊断为MH），但在他的母亲和两个女儿身上没有发现突变。通过检测其他家族成员的家族特异性突变，无需侵入性CICR试验即可诊断MH。
Malignant hyperthermia (MH) is an autosomal dominant disorder of skeletal muscle calcium regulation, and the rate of calcium-induced calcium release (CICR), determined by using skinned fibers of skeletal muscle, has been employed as a diagnostic test for MH susceptibility in Japan. The ryanodine receptor (RYR1), encoding the major calcium-release channel in skeletal muscle sarcoplasmic reticulum, has been shown to be mutated in a number of MH pedigrees. We experienced the detection of accelerated CICR and/or an RYR1 mutation in a patient with an MH episode and his family. Accelerated CICR and an RYR1 mutation (c.14512C>G, p.L4838V) were found in the patient and his father. The MH-causative mutation (c.14512C>G, p.L4838V) was also found in his brother and his son (resulting in the diagnosis of MH without the CICR test), but the mutation was not found in his mother or two daughters. With the detection of the family-specific mutation in other family members, the diagnosis of MH was made without the invasive CICR test.