Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers.

ABSTRACT:

Objective

We performed a genome-wide brain expression study to reveal the underpinnings of diseases linked to a repeat expansion in chromosome 9 open reading frame 72 (C9ORF72).

Methods

The genome-wide expression profile was investigated in brain tissue obtained from C9ORF72 expansion carriers (n = 32), patients without this expansion (n = 30), and controls (n = 20). Using quantitative real-time PCR, findings were confirmed in our entire pathologic cohort of expansion carriers (n = 56) as well as nonexpansion carriers (n = 31) and controls (n = 20).

Results

Our findings were most profound in the cerebellum, where we identified 40 differentially expressed genes, when comparing expansion carriers to patients without this expansion, including 22 genes that

SUBMITTER: Finch NA 

PROVIDER: S-EPMC5479438 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature