Department of Neuropathology, Institute of Psychiatry and Neurology, Sobieskiego St. 9, 02-957 Warsaw, Poland.
Folia Neuropathol. 2011;49(3):174-80.
Granular osmiophilic material (GOM) is a pathognomonic feature of CADASIL that may be a consequence of pathological processes triggered by Notch3 mutations. Since knowledge of the effects of CADASIL-associated GOM deposits is important to understand the molecular pathogenesis of this disorder, we performed a thorough ultrastructural analysis of GOM morphology in the skin and muscle arterioles in CADASIL patients. Electron microscopy revealed numerous GOM deposits with different morphology including size, shape and osmiophilic density. Osmiophilic granular material of high density was frequently observed in part of GOM deposits located near vascular smooth muscle cells (VSMC) while a part localized distally from the cell body was less dense and loose. On the basis of our observations we postulate that GOM can be formed on the surface of VSMC in the arteriolar wall and penetrate from these cells into the basement membrane and/or extracellular matrix. The dispersion of granules, which form GOM deposits, may be one of the factors triggering the thickening and changes in the basement membrane and/or extracellular matrix.
颗粒状亲银物质（GOM）是 CADASIL 的特征性表现，可能是 Notch3 突变引发的病理过程的结果。由于了解与 CADASIL 相关的 GOM 沉积物的作用对于理解该疾病的分子发病机制很重要，因此我们对 CADASIL 患者皮肤和肌肉小动脉中的 GOM 形态进行了彻底的超微结构分析。电子显微镜显示，GOM 沉积物具有不同的形态，包括大小、形状和亲银密度。在靠近血管平滑肌细胞（VSMC）的 GOM 沉积物的一部分中经常观察到高密度的亲银颗粒状物质，而远离细胞体的一部分则密度较低且疏松。根据我们的观察，我们推测 GOM 可以在小动脉壁的 VSMC 表面形成，并从这些细胞穿透到基底膜和/或细胞外基质中。形成 GOM 沉积物的颗粒的分散可能是引发基底膜和/或细胞外基质增厚和变化的因素之一。
