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TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.

Abstract：

:Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and overlapping clinical and pathological features. Here we studied a novel ALS/FTD family and identified the P362L mutation in the low-complexity domain (LCD) of T cell-restricted intracellular antigen-1 (TIA1). Subsequent genetic association analyses showed an increased burden of TIA1 LCD mutations in ALS patients compared to controls (p = 8.7 × 10-6). Postmortem neuropathology of five TIA1 mutations carriers showed a consistent pathological signature with numerous round, hyaline, TAR DNA-binding protein 43 (TDP-43)-positive inclusions. TIA1 mutations significantly increased the propensity of TIA1 protein to undergo phase transition. In live cells, TIA1 mutations delayed stress granule (SG) disassembly and promoted the accumulation of non-dynamic SGs that harbored TDP-43. Moreover, TDP-43 in SGs became less mobile and insoluble. The identification of TIA1 mutations in ALS/FTD reinforces the importance of RNA metabolism and SG dynamics in ALS/FTD pathogenesis.

journal_name

Neuron

journal_title

Neuron

authors

Mackenzie IR,Nicholson AM,Sarkar M,Messing J,Purice MD,Pottier C,Annu K,Baker M,Perkerson RB,Kurti A,Matchett BJ,Mittag T,Temirov J,Hsiung GR,Krieger C,Murray ME,Kato M,Fryer JD,Petrucelli L,Zinman L,Weintraub S,

doi

10.1016/j.neuron.2017.07.025

subject

Has Abstract

pub_date

2017-08-16 00:00:00

pages

808-816.e9

issue

4

eissn

0896-6273

issn

1097-4199

pii

S0896-6273(17)30647-5

journal_volume

95

pub_type

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