Therapeutic Strategies Targeting DUX4 in FSHD

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 <i>DU...

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Main Authors:	Laura Le Gall, Eva Sidlauskaite, Virginie Mariot, Julie Dumonceaux
Format:	Article
Language:	English
Published:	MDPI AG 2020-09-01
Series:	Journal of Clinical Medicine
Subjects:	FSHD DUX4 therapy animal models facioscapulohumeral dystrophy muscle
Online Access:	https://www.mdpi.com/2077-0383/9/9/2886

id	doaj-7ce5a6df1b534b79a6485be6b76a3ecf
record_format	Article
spelling	doaj-7ce5a6df1b534b79a6485be6b76a3ecf2020-11-25T01:58:55ZengMDPI AGJournal of Clinical Medicine2077-03832020-09-0192886288610.3390/jcm9092886Therapeutic Strategies Targeting DUX4 in FSHDLaura Le Gall0Eva Sidlauskaite1Virginie Mariot2Julie Dumonceaux3NIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, London WC1N 1EH, UKNIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, London WC1N 1EH, UKNIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, London WC1N 1EH, UKNIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, London WC1N 1EH, UKFacioscapulohumeral 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 <i>DUX4</i> 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 <i>DUX4</i>, 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 <i>DUX4</i> expression and toxicity in muscle tissue and the cell and animal models designed to date.https://www.mdpi.com/2077-0383/9/9/2886FSHDDUX4therapyanimal modelsfacioscapulohumeral dystrophymuscle
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Laura Le Gall Eva Sidlauskaite Virginie Mariot Julie Dumonceaux
spellingShingle	Laura Le Gall Eva Sidlauskaite Virginie Mariot Julie Dumonceaux Therapeutic Strategies Targeting DUX4 in FSHD Journal of Clinical Medicine FSHD DUX4 therapy animal models facioscapulohumeral dystrophy muscle
author_facet	Laura Le Gall Eva Sidlauskaite Virginie Mariot Julie Dumonceaux
author_sort	Laura Le Gall
title	Therapeutic Strategies Targeting DUX4 in FSHD
title_short	Therapeutic Strategies Targeting DUX4 in FSHD
title_full	Therapeutic Strategies Targeting DUX4 in FSHD
title_fullStr	Therapeutic Strategies Targeting DUX4 in FSHD
title_full_unstemmed	Therapeutic Strategies Targeting DUX4 in FSHD
title_sort	therapeutic strategies targeting dux4 in fshd
publisher	MDPI AG
series	Journal of Clinical Medicine
issn	2077-0383
publishDate	2020-09-01
description	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 <i>DUX4</i> 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 <i>DUX4</i>, 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 <i>DUX4</i> expression and toxicity in muscle tissue and the cell and animal models designed to date.
topic	FSHD DUX4 therapy animal models facioscapulohumeral dystrophy muscle
url	https://www.mdpi.com/2077-0383/9/9/2886
work_keys_str_mv	AT lauralegall therapeuticstrategiestargetingdux4infshd AT evasidlauskaite therapeuticstrategiestargetingdux4infshd AT virginiemariot therapeuticstrategiestargetingdux4infshd AT juliedumonceaux therapeuticstrategiestargetingdux4infshd
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Therapeutic Strategies Targeting DUX4 in FSHD

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