Ten men (ages 22-42 years; M = 29.3; SD = 7.1) with muscular dystrophy (9 with Duchenne's; 1 with Becker's) completed the Eating Assessment Tool (EAT-10; Ann Otol Rhinol Laryngol 117(12):919-924 [33]) and took part in semi-structured interviews.
By miRNA microarray analysis, we identified miR-188 as a novel miRNA that is elevated in the serum of the muscular dystrophy dog model, CXMDJ. miR-188 was not muscle-specific miRNA, but its expression was up-regulated in skeletal muscles associated with muscle regeneration induced by cardiotoxin-injection in normal dogs and mice.
Bi-allelic loss-of-function variants in MSTO1 manifest clinically with a remarkably consistent phenotype of childhood-onset muscular dystrophy, corticospinal tract dysfunction and early-onset non-progressive cerebellar atrophy.
To investigate the potential beneficial effect of TIPE2 in muscular dystrophy, we performed intramuscular injection of adeno-associated virus 9 carrying the TIPE2 gene in mdx mice.
In this study, we found that BMSC treatment in rats subjected to mechanical damage (MD) significantly increased microRNA-340 (miR-340) levels in the regenerated endometrium.
We proposed a mass spectrometry method of hepcidin quantification in sera and aimed at determining hepcidin systemic status in patients with dementia of AD, VaD, or mixed (MD) pathology, with reference to the degree of cognitive loss and structural changes in the brain as well as at evaluating the diagnostic potential of hepcidin as a biomarker.
Reduction in the expression of sarcolipin (SLN), an inhibitor of sarco(endo)plasmic reticulum (SR) Ca<sup>2+</sup>-ATPase (SERCA), ameliorates severe muscular dystrophy in mice.
In addition, we show that a missense mutation (arginine 440 to glutamine) in WWP1-which is known to cause muscular dystrophy in chickens-increases the ubiquitin ligase-mediated ubiquitination of both β-dystroglycan and WWP1.
A significant down-regulation of the miR-29c (<0.001-fold, <i>p</i> = 0.006) was observed in MD carriers with abnormal CMR findings (comprising functional and/or structural abnormalities) compared to those with normal CMR examinations.
Upon transplantation, both mouse and human MuSCs expanded with a Setd7 small-molecule inhibitor are better able to repopulate the satellite cell niche, and treated mouse MuSCs show enhanced therapeutic potential in preclinical models of muscular dystrophy.
Sidt2 deficiency in skeletal muscle results in pathognomonic hallmarks of muscular dystrophy, including muscle mass decrease, muscle weakness, fibrosis, central nucleation, fiber regeneration, mildly elevated serum creatine kinase, and dramatically elevated sarcolipin mRNA.