Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood.

ABSTRACT:

Background

Myotonic dystrophy type 1 (DM1) is an incurable multisystem disease caused by a CTG-repeat expansion in the DM1 protein kinase (DMPK) gene. The OPTIMISTIC clinical trial demonstrated positive and heterogenous effects of cognitive behavioral therapy (CBT) on the capacity for activity and social participations in DM1 patients. Through a process of reverse engineering, this study aims to identify druggable molecular biomarkers associated with the clinical improvement in the OPTIMISTIC cohort.

Methods

Based on full blood samples collected during OPTIMISTIC, we performed paired mRNA sequencing for 27 patients before and after the CBT intervention. Linear mixed effect models were used to identify biomarkers associated with the disease-causing CTG expansion and the mean

SUBMITTER: van Cruchten RTP 

PROVIDER: S-EPMC9646470 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature