Comings D E
Clin Chem. 1982 Apr;28(4 Pt 2):805-12.
Several genetic and non-genetic neurological disorders are characterized by neuronal cell death, followed by astrocytic glial cell proliferation. Because the major intermediate filament in astrocytes is glial fibrillary acidic protein (GFAP), large amounts of this protein accumulate. The two-dimensional gel-electrophoretic pattern of gliosed tissue is described. It shows a massive accumulation of the 50 000-dalton GFAP charge isomers (8e:1--8) plus a series of breakdown products of lower molecular mass and more-acid charge. In addition, I describe a genetic polymorphism, GFAP-Duarte, presenting as an additional, basic charge isomer of GFAP. The possibility that this or other mutations of GFAP may predispose certain neurons to premature cell death is discussed.
几种遗传和非遗传的神经系统疾病的特征是神经元细胞死亡，随后是星形胶质细胞增殖。由于星形胶质细胞中的主要中间丝是胶质纤维酸性蛋白（GFAP），因此会积累大量这种蛋白。本文描述了神经胶质化组织的二维凝胶电泳图谱。它显示了50000道尔顿GFAP电荷异构体（8e:1--8）的大量积累，以及一系列较低分子量和更酸性电荷的降解产物。此外，我还描述了一种遗传多态性，即GFAP-Duarte，它表现为GFAP的一种额外的碱性电荷异构体。文中讨论了GFAP的这种或其他突变可能使某些神经元易发生过早细胞死亡的可能性。
