Association Between Toll-Like Receptor 4 (TLR4) and Triggering Receptor Expressed on Myeloid Cells 2 (TREM2) Genetic Variants and Clinical Progression of Huntington's Disease.

ABSTRACT:

Background

Although Huntington's disease (HD) is caused by a single dominant gene, it is clear that there are genetic modifiers that may influence the age of onset and disease progression.

Objectives

We sought to investigate whether new inflammation-related genetic variants may contribute to the onset and progression of HD.

Methods

We first used postmortem brain material from patients at different stages of HD to look at the protein expression of toll-like receptor 4 (TLR4) and triggering receptor expressed on myeloid cells 2 (TREM2). We then genotyped the TREM2 R47H gene variant and 3 TLR4 single nucleotide polymorphisms in a large cohort of HD patients from the European Huntington's Disease Network REGISTRY.

Results

We found an increase in the number of cells

SUBMITTER: Vuono R 

PROVIDER: S-EPMC7154663 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature