Paciotti Silvia, Albi Elisabetta, Parnetti Lucilla, Beccari Tommaso
Laboratory of Clinical Neurochemistry, Department of Medicine, University of Perugia, Sant'Andrea delle Fratte, 06132 Perugia, Italy.
Section of Physiology and Biochemistry, Department of Experimental Medicine, University of Perugia, Sant'Andrea delle Fratte, 06132 Perugia, Italy.
J Clin Med. 2020 Feb 21;9(2):594. doi: 10.3390/jcm9020594.
Ceramides are a family of bioactive lipids belonging to the class of sphingolipids. Sphingolipidoses are a group of inherited genetic diseases characterized by the unmetabolized sphingolipids and the consequent reduction of ceramide pool in lysosomes. Sphingolipidoses include several disorders as Sandhoff disease, Fabry disease, Gaucher disease, metachromatic leukodystrophy, Krabbe disease, Niemann Pick disease, Farber disease, and GM2 gangliosidosis. In sphingolipidosis, lysosomal lipid storage occurs in both the central nervous system and visceral tissues, and central nervous system pathology is a common hallmark for all of them. Parkinson's disease, the most common neurodegenerative movement disorder, is characterized by the accumulation and aggregation of misfolded α-synuclein that seem associated to some lysosomal disorders, in particular Gaucher disease. This review provides evidence into the role of ceramide metabolism in the pathophysiology of lysosomes, highlighting the more recent findings on its involvement in Parkinson's disease.
神经酰胺是一类属于鞘脂类的生物活性脂质。鞘脂贮积症是一组遗传性疾病，其特征是鞘脂代谢异常，导致溶酶体中神经酰胺池减少。鞘脂贮积症包括多种疾病，如桑德霍夫病、法布里病、戈谢病、异染性脑白质营养不良、克拉贝病、尼曼-匹克病、法伯病和GM2神经节苷脂沉积症。在鞘脂贮积症中，溶酶体脂质蓄积发生在中枢神经系统和内脏组织中，中枢神经系统病变是所有这些疾病的共同特征。帕金森病是最常见的神经退行性运动障碍，其特征是错误折叠的α-突触核蛋白的积累和聚集，这似乎与某些溶酶体疾病有关，特别是戈谢病。本综述提供了神经酰胺代谢在溶酶体病理生理学中作用的证据，突出了其与帕金森病关系的最新研究结果。
