GSE122562 Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity

Conclusions: The ACTA1-MCM;FLExDUX4 bi-transgenic mouse model expresses a chronic low level of DUX4-fl and has mild pathology and detectable muscle weakness. The onset and progression of moderate to severe pathology can be controlled via tamoxifen injection to provide consistent and readily screenable phenotypes for assessing therapies targeting DUX4-fl mRNA and protein. Thus, these FSHD-like mouse models can be used to study a range of DUX4-fl expression and pathology dependent upon investigator need, through controlled mosaic expression of DUX4.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research

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Scapulothoracic arthrodesis (STA) has been proposed for the treatment of painful scapular winging in patients with facioscapulohumeral muscular dystrophy (FSHD). However, the rate of osseous fusion is variable, and there is a theoretical risk of reduced respiratory function after bilateral STA.
Source: Journal of Shoulder and Elbow Surgery - Category: Orthopaedics Authors: Source Type: research
PMID: 31853834 [PubMed - as supplied by publisher]
Source: Sleep and Breathing - Category: Sleep Medicine Authors: Tags: Sleep Breath Source Type: research
PMID: 31853833 [PubMed - as supplied by publisher]
Source: Sleep and Breathing - Category: Sleep Medicine Authors: Tags: Sleep Breath Source Type: research
Source: Sleep and Breathing - Category: Respiratory Medicine Source Type: research
Source: Sleep and Breathing - Category: Respiratory Medicine Source Type: research
CONCLUSIONS: The evidence regarding strength training and aerobic exercise interventions remains uncertain. Evidence suggests that strength training alone may have little or no effect, and that aerobic exercise training alone may lead to a possible improvement in aerobic capacity, but only for participants with FSHD. For combined aerobic exercise and strength training, there may be slight increases in muscle strength and aerobic capacity for people with dermatomyositis and polymyositis, and a slight decrease in aerobic capacity and increase in muscle strength for people with juvenile dermatomyositis. More research with rob...
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
This article reviews the phenotype and pathophysiology of the disease as well as the recent efforts in clinical outcome measures and clinical trials. RECENT FINDINGS As the name implies, FSHD involves weakness of facial muscles, muscles that fix the scapula, and muscles overlying the humerus (biceps and triceps). The distinctive phenotype of FSHD occurs secondary to two different genetic mechanisms. FSHD type 1 (FSHD1) is due to a deletion on chromosome 4q, leading to hypomethylation and derepression of DUX4. FSHD type 2 (FSHD2) is due to mutations in SMCHD1 with resulting hypomethylation of the same subtelomeric region...
Source: CONTINUUM: Lifelong Learning in Neurology - Category: Neurology Tags: REVIEW ARTICLES Source Type: research
This study comprehensively evaluated respiratory muscle strength characteristics in adults with FSHD.Methods: Patients with genetically proven FSHD and controls matched for age, gender and body mass index underwent a three-step evaluation process comprising: spiro-manometric lung function testing; ultrasound assessment of diaphragm excursion and thickening; and inspiratory and expiratory muscle strength testing by invasive recording of twitch transdiaphragmatic pressure (twPdi) and twitch gastric pressure (twPgas) following magnetic stimulation of the phrenic nerves or the lower thoracic nerve roots, respectively.Results: ...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Clinical respiratory physiology, exercise and functional imaging Source Type: research
Background: The inclusion of resistance training in the treatment and management of muscular dystrophy has previously been discouraged, based on mainly anecdotal evidence. There remains a lack of experimental investigation into resistance training in individuals with muscular dystrophy. The aim of the current study was therefore, to determine the effect of a 12-week resistance training programme on muscle strength and functional tasks in ambulatory adults with muscular dystrophy.Methods: Seventeen ambulatory adults with muscular dystrophy (Facioscapulohumeral muscular dystrophy: n = 6, Limb-Girdle muscular dystrophy: n = 6...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Publication date: 12 November 2019Source: Cell Reports, Volume 29, Issue 7Author(s): Rebecca Resnick, Chao-Jen Wong, Danielle C. Hamm, Sean R. Bennett, Peter J. Skene, Sandra B. Hake, Steven Henikoff, Silvère M. van der Maarel, Stephen J. TapscottSummaryThe DUX4 transcription factor is briefly expressed in the early cleavage-stage embryo, where it induces an early wave of zygotic gene transcription, whereas its mis-expression in skeletal muscle causes the muscular dystrophy facioscapulohumeral dystrophy (FSHD). Here, we show that DUX4 induces the expression of the histone variants H3.X and H3.Y. We have used a myobl...
Source: Cell Reports - Category: Cytology Source Type: research
More News: Facioscapulohumeral Muscular Dystrophy (FSHD) | Genetics | Muscular Dystrophy | Pathology | Reflex Sympathetic Dystrophy | Study | Tamoxifen