Duchenne muscular dystrophy animal models for high-throughput drug discovery and precision medicine

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Source: Expert Opinion on Drug Discovery - Category: Drugs & Pharmacology Authors: Source Type: research

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AbstractPrevious studies demonstrated the benefits of motor exercise and physical activity in neuromuscular disorders. However, very few papers assessed the effects of sport practise. The aim of this multicentre study was to assess the impact of sport activity on self-esteem and emotional regulation in a cohort of athletes with neuromuscular disorders. The 38 patients with Duchenne, Becker or other types of muscular dystrophy or spinal muscular atrophy practising sport (aged 13 –49 years) and 39 age-, gender-, disability- and disease-matched patients not practising sport were enrolled. Testing procedures to asse...
Source: Neurological Sciences - Category: Neurology Source Type: research
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Source: International Journal of Neuroscience - Category: Neuroscience Authors: Source Type: research
Contributors : Jordi Camps ; Maurilio SampaolesiSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusFibrosis and fat replacement in the skeletal muscle is a major complication that leads to a loss of mobility in chronic muscle disorders, such as muscular dystrophy. However, our current knowledge on the in vivo properties of adipogenic stem and precursor cells remains unclear, mainly due to the high cell heterogeneity in skeletal muscles. For this purpose, we used single-cell RNA-sequencing to decomplexify interstitial cell populations in healthy and dystrophic skeletal muscles. We identif...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Publication date: Available online 30 March 2020Source: Molecular and Cellular NeuroscienceAuthor(s): Vidya S. Krishnan, Annemieke Aartsma-Rus, Maurice Overzier, Cathleen Lutz, Laurent Bogdanik, Miranda D. Grounds
Source: Molecular and Cellular Neuroscience - Category: Neuroscience Source Type: research
We want to compare mortality in heart transplant (HTx) recipients with and without Muscular Dystrophy.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: (722) Source Type: research
Mutations in the nuclear structural protein lamin A produce rare, tissue-specific diseases called laminopathies. The introduction of a human Emery-Dreifuss muscular dystrophy (EDMD)-inducing mutation into the C. elegans lamin (LMN-Y59C), recapitulates many muscular dystrophy phenotypes, and correlates with hyper-sequestration of a heterochromatic array at the nuclear periphery in muscle cells. Using muscle-specific emerin Dam-ID in worms, we monitored the effects of the mutation on endogenous chromatin. An increased contact with the nuclear periphery along chromosome arms, and an enhanced release of chromosomal centers, co...
Source: Genes and Development - Category: Genetics & Stem Cells Authors: Tags: Research Papers Source Type: research
(Natural News) A rare disease called limb-girdle muscular dystrophy D1 (LMGD1) makes even everyday actions such as climbing stairs, lifting objects and standing up from a chair difficult to do. Over time, it can even cause some people to lose the ability to walk. A recent study, however, shows that lithium can be a possible treatment for LMGD1. Researchers...
Source: NaturalNews.com - Category: Consumer Health News Source Type: news
ConclusionsPsychosocial interventions should address problems of anxiety and depression that people with MDs frequently experience, even through fostering parents ’ and childrens’ engagement coping over disengagement coping.
Source: Journal of Neurology - Category: Neurology Source Type: research
Publication date: Available online 26 March 2020Source: Meta GeneAuthor(s): Omid Daneshjoo, Ali hosseini, Masoud Garshasbi, Antonio Pizzuti
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research
The emergence of CRISPR-Cas9 gene-editing technologies and genome-wide CRISPR-Cas9 libraries enables efficient unbiased genetic screening that can accelerate the process of therapeutic discovery for genetic disorders. Here, we demonstrate the utility of a genome-wide CRISPR-Cas9 loss-of-function library to identify therapeutic targets for facioscapulohumeral muscular dystrophy (FSHD), a genetically complex type of muscular dystrophy for which there is currently no treatment. In FSHD, both genetic and epigenetic changes lead to misexpression of DUX4, the FSHD causal gene that encodes the highly cytotoxic DUX4 protein. We pe...
Source: Science Translational Medicine - Category: Biomedical Science Authors: Tags: Research Articles Source Type: research
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