Association of the TBK1 mutation p.Ile334Thr with frontotemporal dementia and literature review.

ABSTRACT:

Background

The mutation of TANK-binding kinase 1 (TBK1) gene has been regarded as a causative gene of frontotemporal dementia (FTD)-amyotrophic lateral sclerosis (ALS) spectrum disease in recent years. So far, more than 70 TBK1 variants have been identified in patients with FTD-ALS spectrum.

Methods

We reported a Chinese FTD patient carrying TBK1 p.Ile334Thr variant detected by target sequencing and Sanger sequencing. The patient's clinical materials were collected. The transcription and translation levels of TBK1 mutant were investigated in fibroblast by qPCR and western blot. The effects of TBK1 mutant in inflammation pathway and autophagy were detected by luciferase reporter assay and GST pull-down assay.

Results

The patient was diagnosed as behavioral variant FTD

SUBMITTER: Yu H 

PROVIDER: S-EPMC6418353 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature