Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA.
Am J Pathol. 2010 Jul;177(1):311-24. doi: 10.2353/ajpath.2010.090915. Epub 2010 Jun 3.
Progranulin (PGRN) is involved in wound repair, inflammation, and tumor formation, but its function in the central nervous system is unknown. Roles in development, sexual differentiation, and long-term neuronal survival have been suggested. Mutations in the GRN gene resulting in partial loss of the encoded PGRN protein cause frontotemporal lobar degeneration with ubiquitin immunoreactive inclusions. We sought to understand the neuropathological consequences of loss of PGRN function throughout the lifespan of GRN-deficient ((-/+) and (-/-)) mice. An aged series of GRN-deficient and wild-type mice were compared by histology, immunohistochemistry, and electron microscopy. Although GRN-deficient mice were viable, GRN(-/-) mice were produced at lower than predicted frequency. Neuropathologically, GRN(-/+) were indistinguishable from controls; however, GRN(-/-) mice developed age-associated, abnormal intraneuronal ubiquitin-positive autofluorescent lipofuscin. Lipofuscin was noted in aged GRN(+/+) mice at levels comparable with those of young GRN(-/-) mice. GRN(-/-) mice developed microgliosis, astrogliosis, and tissue vacuolation, with focal neuronal loss and severe gliosis apparent in the oldest GRN(-/-) mice. Although no overt frontotemporal lobar degeneration with ubiquitin immunoreactive inclusions type- or TAR DNA binding protein-43-positive lesions were observed, robust lipofuscinosis and ubiquitination in GRN(-/-) mice is strikingly similar to changes associated with aging and cellular decline in humans and animal models. Our data suggests that PGRN plays a key role in maintaining neuronal function during aging and supports the notion that PGRN is a trophic factor essential for long-term neuronal survival.
颗粒体蛋白前体(PGRN)参与伤口修复、炎症和肿瘤形成,但它在中枢神经系统中的功能尚不清楚。已经提出了它在发育、性分化和长期神经元存活中的作用。导致部分缺失编码的 PGRN 蛋白的 GRN 基因突变导致额颞叶变性伴泛素免疫反应性包含物。我们试图了解整个 GRN 缺陷(+/+ 和-/-)小鼠生命周期中 PGRN 功能丧失的神经病理学后果。通过组织学、免疫组织化学和电子显微镜比较了一组年龄较大的 GRN 缺陷和野生型小鼠。尽管 GRN 缺陷小鼠具有活力,但 GRN-/- 小鼠的产生频率低于预期。神经病理学上,GRN-/+与对照组无法区分;然而,GRN-/- 小鼠会出现与年龄相关的异常细胞内泛素阳性自荧光脂褐素。在与年轻的 GRN-/- 小鼠相当的水平上,老年 GRN+/+ 小鼠中也注意到脂褐素。GRN-/- 小鼠出现小胶质细胞增生、星形胶质细胞增生和组织空泡化,在最老的 GRN-/- 小鼠中可见局灶性神经元丢失和严重的神经胶质增生。虽然没有观察到明显的额颞叶变性伴泛素免疫反应性包含物型或 TAR DNA 结合蛋白 43 阳性病变,但 GRN-/- 小鼠中明显的脂褐素和泛素化与人类和动物模型中与衰老和细胞衰退相关的变化非常相似。我们的数据表明,PGRN 在衰老过程中维持神经元功能中发挥关键作用,并支持 PGRN 是维持长期神经元存活所必需的营养因子的观点。