钾通道相关肽MiRP2-R83H变体与周期性麻痹无关联。
Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.
作者信息
Sternberg D, Tabti N, Fournier E, Hainque B, Fontaine B
机构信息
Federations of Biochemistry, Centre hospitalier universitaire Pitié-Salpêtrière, Assistance publique-hôpitaux de Paris et Université Paris VI, Paris, France.
出版信息
Neurology. 2003 Sep 23;61(6):857-9. doi: 10.1212/01.wnl.0000082392.66713.e3.
A missense variant (R83H) of the gene (KCNE3) encoding a potassium channel-associated peptide, MinK-related peptide 2 (MiRP2), has been reported in periodic paralysis patients. In the current study, no difference in the frequency of the MiRP2-R83H variant between periodic paralysis patients and healthy individuals was found. Furthermore, there was no segregation of this gene variant with the disease. These observations weaken the proposal that MiRP2-R83H causes periodic paralysis.
编码钾通道相关肽MinK相关肽2（MiRP2）的基因（KCNE3）的一个错义变体（R83H）已在周期性麻痹患者中被报道。在当前研究中，未发现周期性麻痹患者与健康个体之间MiRP2 - R83H变体的频率存在差异。此外，该基因变体与疾病没有连锁关系。这些观察结果削弱了MiRP2 - R83H导致周期性麻痹的说法。
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