Shinohara Mayu, Saitoh Makiko, Takanashi Jun-ichi, Yamanouchi Hideo, Kubota Masaya, Goto Tomohide, Kikuchi Masahiro, Shiihara Takashi, Yamanaka Gaku, Mizuguchi Masashi
Department of Developmental Medical Sciences, Graduate School of Medicine, University of Tokyo, Japan.
Brain Dev. 2011 Jun;33(6):512-7. doi: 10.1016/j.braindev.2010.09.002. Epub 2010 Oct 12.
The high incidence of acute encephalopathy in East Asia suggests the role of genetic factors in its pathogenesis. It has recently been reported that variations of the CPT II (carnitine palmitoyl transferase II) gene may be associated with fatal or severe cases of influenza-associated encephalopathy. In the present study, we examined the genotype of CPT II in cases of acute encephalopathy associated with various preceding infections. Twenty-nine Japanese patients with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) or acute necrotizing encephalopathy (ANE) were studied. The frequency of F352C of CPT II exon 4 was significantly higher in patients than in controls. All patients who had allele C in F352C had allele I in V368I and allele M in M647V (CIM haplotype), which reportedly decreases CPT II activity to one third of that with FIM or FVM haplotype. The frequency of CIM haplotype was significantly different between patients and controls, but not between AESD and ANE. Our results revealed that having at least one CIM allele is a risk factor for the onset of acute encephalopathy, regardless of its antecedent infections.
东亚地区急性脑病的高发病率表明遗传因素在其发病机制中发挥作用。最近有报道称，肉碱棕榈酰转移酶II（CPT II）基因变异可能与流感相关脑病的致命或严重病例有关。在本研究中，我们检测了与各种先前感染相关的急性脑病病例中CPT II的基因型。对29例患有双相性惊厥和晚期弥散受限的急性脑病（AESD）或急性坏死性脑病（ANE）的日本患者进行了研究。CPT II外显子4的F352C在患者中的频率显著高于对照组。F352C中具有等位基因C的所有患者在V368I中具有等位基因I，在M647V中具有等位基因M（CIM单倍型），据报道，该单倍型可使CPT II活性降至FIM或FVM单倍型的三分之一。CIM单倍型的频率在患者和对照组之间存在显著差异，但在AESD和ANE之间无显著差异。我们的结果显示，无论先前是否有感染，至少拥有一个CIM等位基因是急性脑病发病的危险因素。
