Immunohistochemical Studies on Cerebellar Purkinje Cells of Patients with Menkes' Kinky Hair Disease
Immunohistochemical Studies on Cerebellar Purkinje Cells of Patients with Menkes' Kinky Hair Disease
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门克斯卷发病患者小脑浦肯野细胞的免疫组织化学研究
DOI：
10.1111/j.1440-1789.1993.tb00227.x
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发表时间：
1993
期刊：
影响因子：
2.3
通讯作者：
M. Shintaku
中科院分区：
文献类型：
--
作者：
S. Kato;Masayuki Ito;E. Ohama;K. Mikoshiba;N. Maeda;S. Yen;A. Hirano;F. Herz;M. Shintaku
使用抗肌醇1，4，5-三磷酸受体（与小脑浦肯野细胞糖蛋白P400（P400/IP 3R）相同）的抗体，对8例Menkes扭结毛发病（MD）患者的小脑浦肯野细胞进行免疫组织化学研究。在正常小脑浦肯野细胞，胞体，轴突和树突，包括棘状小枝特异性染色的抗体。相比之下，MD浦肯野细胞的免疫反应性范围从阴性到阳性。在MD浦肯野细胞中最常见的染色模式是不同程度表达P400/IP 3R的树突的细胞体和近端部分，包括多刺小枝的外周树突未被染色。还分析了8名患者的浦肯野细胞磷酸化神经丝蛋白（pNFP）、αB-晶体蛋白、应激反应蛋白（srp）72、srp 27和泛素的表达。大多数MD浦肯野细胞体与针对pNFP的抗体反应。尽管染色的浦肯野细胞比例较少，但也观察到αB-晶体蛋白抗体、srp 72和srp 27的阳性反应。与此相反，没有正常的浦肯野细胞染色的这些抗体。我们的研究结果表明，MD患者的浦肯野细胞中P400/IP 3R的功能受损，这些细胞具有异常的NFP磷酸化，并且一些受损的浦肯野细胞合成特定的应激相关蛋白。
Immunohistochemical investigations were carried out on cerebellar Purkinje cells of eight patients with Menkes' kinky hair disease (MD) using an antibody against the inositol 1, 4, 5‐triphosphate receptor which is identical to the cerebellar Purkinje cell glycoprotein P400 (P400/IP3R). In normal cerebellar Purkinje cells, the cell bodies, axons and dendrites including spiny branchlets were specifically stained by the antibody. By comparison, the immunoreactivity of the MD Purkinje cells ranged from negative to positive. The most frequent staining pattern in the MD Purkinje cells was that of cell bodies and proximal portions of the dendrites expressing P400/IP3R in varying degrees, with the peripheral dendrites including spiny branchlets not being stained. The Purkinje cells of the eight patients were also analyzed for expression of phosphorylated neurofilament proteins (pNFP), αB‐crystallin, stress‐response protein (srp) 72, srp 27 and ubiquitin. Most MD Purkinje cell bodies reacted with the antibody against pNFP. Although the proportion of stained Purkinje cells was less, a positive reaction was also observed with the antibodies to αB‐crystallin, srp 72 and srp 27. By contrast, no normal Purkinje cell was stained by these antibodies. Our results suggest that the function of P400/IP3R in the Purkinje cells of MD patients is impaired, that these cells have an aberrant phosphorylation of NFP and that some of the imparied Purkinje cells synthesize specific sets of stress‐related proteins.