特雷姆2
疾病
失智症
痴呆
表型
阿尔茨海默病
小胶质细胞
医学
白质脑病
神经科学
生物
免疫学
遗传学
基因
炎症
病理
作者
Susana Carmona,Kathleen R. Zahs,Elizabeth Wu,Kelly Dakin,José Brás,Rita Guerreiro
标识
DOI:10.1016/s1474-4422(18)30232-1
摘要
Alzheimer's disease is a genetically complex disorder; rare variants in the triggering receptor expressed on myeloid cells 2 (TREM2) gene have been shown to as much as triple an individual's risk of developing Alzheimer's disease. TREM2 is a transmembrane receptor expressed in cells of the myeloid lineage, and its association with Alzheimer's disease supports the involvement of immune and inflammatory pathways in the cause of the disease, rather than as a consequence of the disease. TREM2 variants associated with Alzheimer's disease induce partial loss of function of the TREM2 protein and alter the behaviour of microglial cells, including their response to amyloid plaques. TREM2 variants have also been shown to cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and frontotemporal dementia. Although the low frequency of TREM2 variants makes it difficult to establish robust genotype–phenotype correlations, such studies are essential to enable a comprehensive understanding of the role of TREM2 in different neurological diseases, with the ultimate goal of developing novel therapeutic approaches.
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