Texas university will no longer bred dogs with a muscular wasting disease

Texas A&M University will stop breeding canines onsite to have the genetic disease duchenne muscular dystrophy, which eventually leaves sufferers unable to walk.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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The objective of this study was to assess respiratory muscle quality and function in DMD using magnetic resonance imaging and to determine the relationship to clinical respiratory function.MethodsIndividuals with DMD (n = 36) and unaffected controls (n = 12) participated in this cross sectional magnetic resonance imaging study. Participants underwent dynamic imaging of the thorax to assess diaphragm and chest wall mobility and chemical shift-encoded imaging of the chest and abdomen to determine fatty infiltration of the accessory respiratory muscles. Additionally, clinical pulmonary function mea...
Source: Journal of Neurology - Category: Neurology Source Type: research
Neuropediatrics DOI: 10.1055/s-0039-1695787Muscular dystrophy-dystroglycanopathies (MDDG) are a group of genetically heterogeneous autosomal recessive disorders characterized by hypoglycosylation of α-dystroglycan. Here, we report on two female patients from a consanguineous Lebanese family that presented in early infancy with generalized muscle hypotonia and primary microcephaly. Brain magnetic resonance imaging (MRI) showed different degrees of hypoplasia of the cerebellar vermis and hypoplasia of corpus callosum. Muscle biopsy analyses revealed a muscular dystrophy with reduced expression of α-dystroglycan a...
Source: Neuropediatrics - Category: Neurology Authors: Tags: Short Communication Source Type: research
by Luca Madaro, Alessio Torcinaro, Marco De Bardi, Federica F. Contino, Mattia Pelizzola, Giuseppe R. Diaferia, Giulia Imeneo, Marina Bouch è, Pier Lorenzo Puri, Francesca De Santa Satellite cells (SCs) are muscle stem cells that remain quiescent during homeostasis and are activated in response to acute muscle damage or in chronic degenerative conditions such as Duchenne Muscular Dystrophy. The activity of SCs is supported by specialized cells which either reside in the musc le or are recruited in regenerating skeletal muscles, such as for instance macrophages (MΦs). By using a dystrophic mouse model of transie...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
Cardiomyopathy is a common and lethal complication in patients with limb-girdle muscular dystrophy (LGMD), one of the most prevalent forms of muscular dystrophy. The pathogenesis underlying LGMD-related cardiomyopathy remains unclear. NRIP (gene name DCAF6), a Ca2+-dependent calmodulin binding protein, was reduced in dystrophic muscles from LGMD patients. Mice lacking NRIP exhibit a myopathic phenotype resembling that in LGMD patients, making NRIP deficiency a potential culprit leading to cardiomyopathy.
Source: Journal of Molecular and Cellular Cardiology - Category: Cytology Authors: Source Type: research
Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease resulting in severe respiratory derangements. As such, DMD patients are at a high risk of nocturnal hypoventilation, thereby requiring n...
Source: Respiratory Research - Category: Respiratory Medicine Authors: Tags: Research Source Type: research
This study demonstrated that CoQ10 treatment was able to reduce levels of oxidative stress markers, such as H2O2, acting as an antioxidant, as well as decreasing abnormal intracellular calcium influx in dystrophic muscles cells. This study demonstrated that CoQ10 treatment was able to reduce levels of oxidative stress markers, such as H2O2, acting as an antioxidant, as well as decreasing abnormal intracellular calcium influx in dystrophic muscles cells. Our findings also suggest that the decrease of oxidative stress reduces the need for upregulation of antioxidant pathways, such as SOD and GSH. PMID: 31620981 [PubMed ...
Source: Cell Stress and Chaperones - Category: Cytology Authors: Tags: Cell Stress Chaperones Source Type: research
CONCLUSIONS: Since there were no RCTs or quasi-RCTs available to evaluate the effectiveness of standing devices in people with DMD, studies are needed to investigate the effectiveness of standing devices in this population. PMID: 31606891 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
Contributors : Kevin I Watt ; Mark Ziemann ; Richard J Mills ; Man-Kit-Sam Lee ; Adam Hagg ; Hongwei Qian ; Fergus L Sully ; Assam El-Osta ; Andrew J Murphy ; Stephen J Tapscott ; James E Hudson ; Paul GregorevicSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensFacioscapulohumeral muscular dystrophy (FSHD) is characterised by a progressive degeneration and weakness of skeletal muscle fibers attributed to inappropriate expression of the transcription factor double homeobox 4 (DUX4). However, the cellular events that precede pathology in DUX4 expressing muscle fibers remain incompletely u...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
This study aimed to assess the development of left ventricular (LV) dysfunction that mimics DMD pathologies in golden retriever muscular dystrophy (GRMD) dogs.
Source: Journal of the American Society of Echocardiography - Category: Cardiology Authors: Source Type: research
Conditions:   Duchenne Muscular Dystrophy;   Pompe Disease (Late-onset) Intervention:   Genetic: Laboratory Tests Sponsor:   Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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