MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, United Kingdom; The Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, United Kingdom.
MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, United Kingdom.
Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1273-1281. doi: 10.1016/j.bbadis.2017.04.003. Epub 2017 Apr 6.
The Neuronal Ceroid Lipofuscinoses (NCLs, Batten disease) are a group of inherited neurodegenerative disorders with variable age of onset, characterized by the lysosomal accumulation of autofluorescent ceroid lipopigments. The endoplasmic reticulum (ER) is a critical organelle for normal cell function. Alteration of ER homeostasis leads to accumulation of misfolded protein in the ER and to activation of the unfolded protein response. ER stress and the UPR have recently been linked to the NCLs. In this review, we will discuss the evidence for UPR activation in the NCLs, and address its connection to disease pathogenesis. Further understanding of ER-stress response involvement in the NCLs may encourage development of novel therapeutical agents targeting these pathogenic pathways.
神经元蜡样脂褐质沉积症（NCLs，Batten 病）是一组具有可变发病年龄的遗传性神经退行性疾病，其特征是溶酶体中堆积有自发荧光的类脂褐素。内质网（ER）是正常细胞功能的关键细胞器。ER 稳态的改变导致 ER 中错误折叠蛋白的积累，并激活未折叠蛋白反应。内质网应激和 UPR 最近与 NCLs 有关。在这篇综述中，我们将讨论 UPR 在 NCLs 中的激活证据，并探讨其与疾病发病机制的关系。进一步了解 ER 应激反应在 NCLs 中的参与可能会鼓励开发针对这些致病途径的新型治疗药物。
