Hinson S R, Pittock S J, Lucchinetti C F, Roemer S F, Fryer J P, Kryzer T J, Lennon V A
Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Neurology. 2007 Dec 11;69(24):2221-31. doi: 10.1212/01.WNL.0000289761.64862.ce. Epub 2007 Oct 10.
Autoantibody specific for the aquaporin-4 astrocytic water channel is restricted to serum and CSF of patients with neuromyelitis optica (NMO) and related CNS inflammatory demyelinating disorders (relapsing optic neuritis and longitudinally extensive transverse myelitis). NMO-typical lesions are distinct from MS-typical lesions. Aquaporin-4 is lost selectively at vasculocentric sites of edema/inflammation coinciding with focal deposits of immunoglobulins (Ig) G, M, and terminal complement products, with and without myelin loss. Evidence for antigen-specific autoantibody pathogenicity is lacking.
We used confocal microscopy and flow cytometry to evaluate the selectivity and immunopathological consequences of Ig binding to surface epitopes of living target cells expressing aquaporin-4 fused at its cytoplasmic N-terminus with GFP. We tested serum, IgG-enriched and IgG-depleted serum fractions, and CSF from patients with NMO, neurologic control patients, and healthy subjects. We also analyzed aquaporin-4 immunoreactivity in myelinated adult mouse optic nerves and spinal cord, and plasma cell Ig isotypes in archived brain tissue from an NMO patient.
Serum IgG from patients with NMO binds to the extracellular domain of aquaporin-4; it is predominantly IgG(1), and it initiates two potentially competing outcomes, aquaporin-4 endocytosis/degradation and complement activation. Serum and CSF lack aquaporin-4-specific IgM, and plasma cells in CNS lesions of NMO contain only IgG. Paranodal astrocytic endfeet highly express aquaporin-4.
NMO patients' serum IgG has a selective pathologic effect on cell membranes expressing aquaporin-4. IgG targeting astrocytic processes around nodes of Ranvier could initiate demyelination.
水通道蛋白4星形胶质细胞水通道特异性自身抗体仅限于视神经脊髓炎(NMO)及相关中枢神经系统炎性脱髓鞘疾病(复发型视神经炎和纵向广泛横贯性脊髓炎)患者的血清和脑脊液中。NMO典型病变与多发性硬化(MS)典型病变不同。水通道蛋白4在水肿/炎症的血管周围部位选择性缺失,同时伴有免疫球蛋白(Ig)G、M和补体终末产物的局灶性沉积,伴或不伴有髓鞘脱失。目前缺乏抗原特异性自身抗体致病性的证据。
我们使用共聚焦显微镜和流式细胞术来评估Ig与在细胞质N端融合绿色荧光蛋白(GFP)的水通道蛋白4的活靶细胞表面表位结合的选择性和免疫病理后果。我们检测了NMO患者、神经系统对照患者和健康受试者的血清、富含IgG和去除IgG的血清组分以及脑脊液。我们还分析了成年小鼠有髓鞘的视神经和脊髓中的水通道蛋白4免疫反应性,以及一名NMO患者存档脑组织中的浆细胞Ig同种型。
NMO患者的血清IgG与水通道蛋白4的细胞外结构域结合;主要为IgG1,它引发两种潜在的竞争结果,即水通道蛋白4的内吞作用/降解和补体激活。血清和脑脊液中缺乏水通道蛋白4特异性IgM,NMO中枢神经系统病变中的浆细胞仅含有IgG。结旁星形胶质细胞终足高度表达水通道蛋白4。
NMO患者的血清IgG对表达水通道蛋白4的细胞膜具有选择性病理作用。靶向郎飞结周围星形胶质细胞突起的IgG可引发脱髓鞘。