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APOE ε 4 is also required in TREM 2 R47H variant carriers for Alzheimer's disease to develop
Author(s) -
Murray C. E.,
King A.,
Troakes C.,
Hodges A.,
Lashley T.
Publication year - 2019
Publication title -
neuropathology and applied neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.538
H-Index - 95
eISSN - 1365-2990
pISSN - 0305-1846
DOI - 10.1111/nan.12474
Subject(s) - neuropathology , neuroscience , neuroinformatics , neurology , psychology , psychiatry , psychoanalysis , medicine , disease
In late-onset Alzheimer's disease (AD), the ε4 allele of the apolipoprotein E gene (APOE) is the major known genetic risk factor [1]. In 2013 two research groups reported the R47H variant of triggering receptor expressed on myeloid cells 2 (TREM2), is associated with AD by almost as much as APOE ε4 [2,3]. A loss-of-function R47H mutation in TREM2 is also one of the strongest single allele genetic risk factors for AD [2,3], providing a link between microglia dysfunction and AD pathogenesis. TREM2 encodes a single-pass type I membrane protein that forms a receptor-signaling complex with the TYRO protein tyrosine kinase-binding protein (TYROBP) triggering immune responses in certain macrophages and dendritic cells. This article is protected by copyright. All rights reserved.