Murakami N, Kitamura N, Kajimoto Y, Hashimoto T, Yasuda M, Maeda K, Sakai N, Shirakawa O, Nishino N, Tanaka C, Saito N
Laboratory of Molecular Pharmacology, Biosignal Research Center, Kobe University, Kobe, Japan.
Am J Med Genet. 1999 Aug 20;88(4):291-3.
The specificity of cytoarchitectural abnormalities in limbic structures of patients with schizophrenia and their contributions towards the etiology of schizophrenia remain unknown. We have recently reported an increased breakdown of nonerythroid alpha-spectrin (fodrin), a major component of neuronal cytoskeletal proteins, in schizophrenic left superior temporal cortices [Kitamura et al., 1998: Biol Psychiatry 43:254-262], suggesting that polymorphisms of the alpha-spectrin gene might contribute to the vulnerability to schizophrenia. We screened for genetic variations associated with schizophrenia through the C-terminus sequences of the human nonerythroid alpha-spectrin gene (SPTAN1) spanning two EF-hands and also tested a possible contribution of the polymorphism to the development of schizophrenia by an association study. We found a polymorphic region of an intron located in the second EF-hand of SPTAN1 gene. There was no significant difference between patients with schizophrenia and controls in allele frequencies or genotype distribution. There is evidence that the Psh BI SPTAN1 gene polymorphism does not play a major role in the genetic component of schizophrenia.
精神分裂症患者边缘系统细胞结构异常的特异性及其对精神分裂症病因的影响尚不清楚。我们最近报道,在精神分裂症患者左侧颞上叶皮质中,非红细胞α-血影蛋白(肌动蛋白)(一种神经元细胞骨架蛋白的主要成分)的降解增加[北村等人,1998年:《生物精神病学》43:254 - 262],这表明α-血影蛋白基因的多态性可能导致对精神分裂症的易感性。我们通过跨越两个EF手型结构域的人类非红细胞α-血影蛋白基因(SPTAN1)的C末端序列筛选与精神分裂症相关的基因变异,并通过关联研究测试该多态性对精神分裂症发病的可能影响。我们在SPTAN1基因的第二个EF手型结构域的内含子中发现了一个多态性区域。精神分裂症患者与对照组在等位基因频率或基因型分布上没有显著差异。有证据表明,Psh BI SPTAN1基因多态性在精神分裂症的遗传成分中不发挥主要作用。