Extracellular microRNAs (ex-miRNAs) are putative, minimally invasive biomarkers of DMD.Specific ex-miRNAs (e.g. miR-1, miR-133a, miR-206, and miR-483) are highly up-regulated in the serum of DMD patients and dystrophic animal models and are restored to wild-type levels following exon skipping-mediated dystrophin rescue in mdx mice.
Extracellular microRNAs (ex-miRNAs) are putative, minimally invasive biomarkers of DMD.Specific ex-miRNAs (e.g. miR-1, miR-133a, miR-206, and miR-483) are highly up-regulated in the serum of DMD patients and dystrophic animal models and are restored to wild-type levels following exon skipping-mediated dystrophin rescue in mdx mice.
Extracellular microRNAs (ex-miRNAs) are putative, minimally invasive biomarkers of DMD.Specific ex-miRNAs (e.g. miR-1, miR-133a, miR-206, and miR-483) are highly up-regulated in the serum of DMD patients and dystrophic animal models and are restored to wild-type levels following exon skipping-mediated dystrophin rescue in mdx mice.
Our data revealed that miR-499 was significantly upregulated in all DMD patients, and true carriers (mothers), while 78 % of potential carriers (sisters) exhibited high levels of this miRNA.
Dystrophin protein 71 (Dp71) is the major DMD gene product expressed in the brain and mutations affecting its expression are associated with the DMD neuropsychiatric syndrome.
Duchenne muscular dystrophy (DMD), which is caused by a mutation/deletion in the dystrophin gene on the X-chromosome, is the most common type of neuromuscular disorder in pediatrics.
Transgenic overexpression of the transmembrane protein sarcospan (SSPN) in the DMD mdx mouse model significantly reduces disease pathology by restoring membrane adhesion.
Therefore, glucocorticoids interfere with potential muscle mass benefits associated with targeting Mstn, and the ramifications of glucocorticoid use should be a consideration during clinical trial design for DMD therapeutics.
A series of studies applying antisense oligonucleotides (AONs) in the <i>mdx</i> mouse model for DMD has been reported over the last two decades, claiming a variable range of exon skipping and increased dystrophin levels correlated to some functional improvement.
Reprogramming of human Peripheral Blood Mononuclear Cell (PBMC) from a Chinese patient suffering Duchenne muscular dystrophy to iPSC line (SDQLCHi007-A) carrying deletion of 49-50 exons in the DMD gene.
This is the first in vivo evidence that foamy virus vector transduced DMD myoblasts can contribute to muscle regeneration and mediate functional dystrophin restoration following their intra-muscular transplantation, representing a promising therapeutic strategy for individual small muscles in DMD.
Blockade of IGF2R by neutralizing antibodies stimulated muscle regeneration, induced force recovery and normalized capillary architecture in dystrophic mdx mice representing an encouraging starting point for the development of new biological therapies for DMD.
Our results demonstrate that opening of remodeled and S-nitrosylated Cx43 hemichannels play a key role in the development of arrhythmias in DMD mice and may serve as therapeutic targets to prevent fatal arrhythmias in DMD patients.
Furthermore, the stepwise procedure of prenatal diagnosis of DMD gene was shown in our study, which is important for assessing the mutation type of fetuses and providing perinatal care in DMD high-risk families.
The <i>in vivo</i> requirements of dystrophin during cerebellar circuit communication could help explain the motor and cognitive anomalies seen in individuals with DMD.This article has an associated First Person interview with the first author of the paper.
Mdx showed focal lesions with intense inflammation and fibrosis related to immunoexpression of MMP-2 and MMP-9, proving the hypothesis that these MMPs are linked to muscular tissue degeneration, which can be regenerated by their inhibition, improving the treatment of DMD carriers.