Therapeutic Strategies Targeting DUX4 in FSHD

Overview

Journal J Clin Med

Specialty General Medicine

Date 2020 Sep 10

PMID 32906621

Citations 17

Authors

Laura Le Gall

Eva Sidlauskaite

Virginie Mariot

Julie Dumonceaux

Affiliations

Soon will be listed here.

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle dystrophy typically affecting patients within their second decade. Patients initially exhibit asymmetric facial and humeral muscle damage, followed by lower body muscle involvement. FSHD is associated with a derepression of gene encoded by the D4Z4 macrosatellite located on the subtelomeric part of chromosome 4. DUX4 is a highly regulated transcription factor and its expression in skeletal muscle contributes to multiple cellular toxicities and pathologies ultimately leading to muscle weakness and atrophy. Since the discovery of the FSHD candidate gene , many cell and animal models have been designed for therapeutic approaches and clinical trials. Today there is no treatment available for FSHD patients and therapeutic strategies targeting DUX4 toxicity in skeletal muscle are being actively investigated. In this review, we will discuss different research areas that are currently being considered to alter expression and toxicity in muscle tissue and the cell and animal models designed to date.

Citing Articles

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