Facioscapulohumeral Muscular Dystrophy (FSHD) Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Optimization of Xenografting Methods for Generating Human Skeletal Muscle in Mice
Cell Transplant. 2024 Jan-Dec;33:9636897241242624. doi: 10.1177/09636897241242624.ABSTRACTXenografts of human skeletal muscle generated in mice can be used to study muscle pathology and to test drugs designed to treat myopathies and muscular dystrophies for their efficacy and specificity in human tissue. We previously developed methods to generate mature human skeletal muscles in immunocompromised mice starting with human myogenic precursor cells (hMPCs) from healthy individuals and individuals with facioscapulohumeral muscular dystrophy (FSHD). Here, we examine a series of alternative treatments at each stage in order to ...
Source: Cell Transplantation - April 11, 2024 Category: Cytology Authors: Andrea O'Neill Anna Llach Martinez Amber L Mueller Weiliang Huang Anthony Accorsi Maureen A Kane David Eyerman Robert J Bloch Source Type: research

Muscle strength, quantity and quality and muscle fat quantity and their association with oxidative stress in patients with facioscapulohumeral muscular dystrophy: Effect of antioxidant supplementation
Free Radic Biol Med. 2024 Apr 2:S0891-5849(24)00166-7. doi: 10.1016/j.freeradbiomed.2024.04.001. Online ahead of print.ABSTRACTThe purpose of this study was to identify causes of quadriceps muscle weakness in facioscapulohumeral muscular dystrophy (FSHD). To this aim, we evaluated quadriceps muscle and fat volumes by magnetic resonance imaging and their relationships with muscle strength and oxidative stress markers in adult patients with FSHD (n = 32) and healthy controls (n = 7), and the effect of antioxidant supplementation in 20 of the 32 patients with FSHD (n = 10 supplementation and n = 10 placebo) (NCT01596803). Com...
Source: Free Radical Biology and Medicine - April 4, 2024 Category: Biology Authors: Vinicius Dias Wilson S ébastien Bommart Emilie Passerieux Claire Thomas Jo ël Pincemail Marie Christine Picot Jacques Mercier Florence Portet Sandrine Arbogast Dalila Laoudj-Chenivesse Source Type: research

Updates on Facioscapulohumeral Muscular Dystrophy (FSHD)
AbstractPurpose of reviewThis review aims to provide a summary of the pathophysiology, clinical presentation and management options for facioscapulohumeral dystrophy (FSHD). We discuss current management options and delve into updates about developments in targeted therapy.Recent findingsNew breakthroughs in FSHD research have led to a further understanding of aberrant DUX4 protein expression in the underlying pathophysiology of FSHD. This has paved the way for the development of targeted therapies aimed at targeting DUX4 expression or its downstream effects. Therapeutic strategies for FSHD primarily target DUX4 through th...
Source: Current Treatment Options in Neurology - April 2, 2024 Category: Neurology Source Type: research

Facioscapulohumeral muscular dystrophy Health Index: Japanese translation and validation study
CONCLUSIONS: The FSHD-HI-J is a valid and reliable patient-reported outcome measure for Japanese patients with FSHD. This validated, disease-specific patient-reported outcome is essential for future clinical practice and clinical trials.PMID:38555736 | DOI:10.1080/09638288.2024.2322035 (Source: Disability and Rehabilitation)
Source: Disability and Rehabilitation - March 31, 2024 Category: Rehabilitation Authors: Haruo Fujino Masanori P Takahashi Harumasa Nakamura Chad R Heatwole Hiroto Takada Satoshi Kuru Katsuhisa Ogata Kiyoka Enomoto Yuto Hayashi Osamu Imura Tsuyoshi Matsumura Source Type: research

GSE201185 Hit-and-run silencing of endogenous DUX4 by targeting DNA hypomethylation on D4Z4 repeats in facioscapulohumeral muscular dystrophy
Series Type : Methylation profiling by genome tiling array ; Expression profiling by high throughput sequencingOrganism : Homo sapiensThis SuperSeries is composed of the SubSeries listed below. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - March 31, 2024 Category: Genetics & Stem Cells Tags: Methylation profiling by genome tiling array Expression profiling by high throughput sequencing Homo sapiens Source Type: research

GSE201178 Hit-and-run silencing of endogenous DUX4 by targeting DNA hypomethylation on D4Z4 repeats in facioscapulohumeral muscular dystrophy [RNA-seq]
In this study, we report that by applying hit-and-run silencing with dCas9-mediated epigenetic editing targeting DNA hypomethylation on D4Z4 repeats, we could achieve suppression of endogenous DUX4 in our FSHD patients-derived iPSC model. Notably, DNA methylation was significantly upregulated in FSHD cells and suppression effect was observed at least two weeks after intervention, which was not the case by transient treatment of typical dCas9-KRAB alone. Off-target analysis showed that despite the potential genome-wide risk in DNA methylation, the impact on transcriptome was limited. We propose that hit-and-run silencing ca...
Source: GEO: Gene Expression Omnibus - March 31, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research

GSE199690 Hit-and-run silencing of endogenous DUX4 by targeting DNA hypomethylation on D4Z4 repeats in facioscapulohumeral muscular dystrophy [EPIC Methylation]
In this study, we report that by applying hit-and-run silencing with dCas9-mediated epigenetic editing targeting DNA hypomethylation on D4Z4 repeats, we could achieve suppression of endogenous DUX4 in our FSHD patients-derived iPSC model. Notably, DNA methylation was significantly upregulated in FSHD cells and suppression effect was observed at least two weeks after intervention, which was not the case by transient treatment of typical dCas9-KRAB alone. Off-target analysis showed that despite the potential genome-wide risk in DNA methylation, the impact on transcriptome was limited. We propose that hit-and-run silencing ca...
Source: GEO: Gene Expression Omnibus - March 31, 2024 Category: Genetics & Stem Cells Tags: Methylation profiling by genome tiling array Homo sapiens Source Type: research

The complementary use of muscle ultrasound and MRI in FSHD: Early versus later disease stage follow-up
CONCLUSIONS: Muscle ultrasound may capture accelerated pathological muscle changes in FSHD in early disease, while muscle MRI appears better-suited to detecting and monitoring pathology in later stages.SIGNIFICANCE: Our results help establish each techniques' optimal use as imaging biomarker.PMID:38521678 | DOI:10.1016/j.clinph.2024.02.036 (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - March 23, 2024 Category: Neurology Authors: Sanne C C Vincenten Nicol C Voermans Donnie Cameron Baziel G M van Engelen Nens van Alfen Karlien Mul Source Type: research

Long-read sequencing improves diagnostic rate in neuromuscular disorders
Acta Myol. 2023 Dec 20;42(4):123-128. doi: 10.36185/2532-1900-394. eCollection 2023.ABSTRACTMassive parallel sequencing methods, such as exome, genome, and targeted DNA sequencing, have aided molecular diagnosis of genetic diseases in the last 20 years. However, short-read sequencing methods still have several limitations, such inaccurate genome assembly, the inability to detect large structural variants, and variants located in hard-to-sequence regions like highly repetitive areas. The recently emerged PacBio single-molecule real-time (SMRT) and Oxford nanopore technology (ONT) long-read sequencing (LRS) methods have been...
Source: Acta Myologica - February 26, 2024 Category: Neurology Authors: Rafaela Owusu Marco Savarese Source Type: research