Muscular Dystrophy - Crossref

Transient receptor potential channel 6 regulates abnormal cardiac S-nitrosylation in Duchenne muscular dystrophy

"We find that transient receptor potential channel 6 modulates increased nitrosative stress in dmd +/u2212 mice, as shown by an increase in protein S-nitrosylation" and a wide high-throughput analysis of S-nitrosylation in this model. " Dmd mdx-sylation profiles in mouse hearts lacking Trpc6 are shown to improved cardiac function and reduced fibrosis, according to improved cardiac function and reduced fibrosis. These results show a correlation between Trpc6-mediated Ca 2+ signaling and nitrosative stress in DMD's redox pathobiology. ".

Source link: https://doi.org/10.1073/pnas.1712623114

Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy

"Significance Duchenne muscular dystrophy is a genetic disorder characterized by extensive muscle loss attributed to a protein dystrophin deficion. " Despite lacking dystrophin, two atypical dogs in the golden retriever muscular dystrophy dog model of DMD had significantly lower phenotypes compared to their severely affected littermates. phosphatidylinositol transfer protein-u03b1 decreased expression in these two notable dogs relative to those with severely affected dogs.

Source link: https://doi.org/10.1073/pnas.1703556114

Glucocorticoids enhance muscle endurance and ameliorate Duchenne muscular dystrophy through a defined metabolic program

"Pharmacologic GC therapy also improves muscle tone in patients with Duchenne muscular dystrophy, a genetic muscle disease disorder that causes muscle loss. " "Physiological effects of GCs on muscle endurance and their therapeutic role in DMD are partially mediated by the introduction of a potent metabolic gene called Kruppel-like factor 15.

Source link: https://doi.org/10.1073/pnas.1512968112

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers

"Facioscapulohumeral muscular dystrophy is a progressive neuromuscular disorder characterized by fragments of repetitive elements within the macrosatellite D4Z4 on chromosome 4q35. " We compared global analysis of gene expression in two specific muscle samples from a large number of FSHD subjects and their unaffected first-degree relatives to help determine the pathophysiology of FSHD and identify mRNA-based biomarkers of affected muscles. Both muscle types had small to medium gene expression differences, with 191 and 110 genes differentially expressed between affected and control samples of biceps and deltoid muscle tissue samples, respectively, with 29 genes in common. In a validation study of an additional 26 patients and predicting them as FSHD or control with 90 percent accuracy based on deltoids, 15 genes altered in this study were used as a u201cmolecular signature u201d.

Source link: https://doi.org/10.1073/pnas.1209508109

A second promoter provides an alternative target for therapeutic up-regulation of utrophin in Duchenne muscular dystrophy

"Duchenne muscular dystrophy is an inheritable muscle-wasting disorder triggered by a lack of a muscle cytoskeletal protein, dystrophin. " We have previously shown that utrophin, the autosomal homologue of dystrophin in a mouse model of DMD, can compensate for the lack of dystrophin in a mouse model of DMD; we have also carried out a comprehensive investigation into the transcriptional regulation of utrophin to find ways of affecting its up-regulation of DMD muscle. We have previously identified a promoter gene living within the CpG island at the 5'u2032 end of the gene and have demonstrated it to be synaptically controlled in vivo. These results greatly contribute to understanding the molecular physiology of utrophin expression and are particularly relevant because the promoter revealed here provides an alternative target for transcriptional activation of utrophin in DMD muscle.

Source link: https://doi.org/10.1073/pnas.96.24.14025

Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy

"Facioscapulohumeral muscular dystrophy is a neuromuscular disorder that is characterized by an insidious onset and progressive course. " mRNA populations from various cell types can be used to identify genes that are specific to a specific biological or pathological process. We have compared mRNA profiles of FSHD and normal muscle in this study. Our findings indicate that a global misregulation of gene expression is the underlying basis of FSHD, distinguishing it from other aspects of muscular dystrophy.

Source link: https://doi.org/10.1073/pnas.96.22.12650

Pain characteristics among individuals with Duchenne muscular dystrophy according to their clinical stage

"Abstract Background: "Abstract Background Examination of Pain is not consistent, standardized, or well understood in patients with Duchenne muscular dystrophy despite the fact that pain is a common problem among more than half of patients with DMD, even though it is a common problem. " Face-to-face interviews were conducted using a structured questionnaire to determine pain frequency, duration, strength, presence, aggravating/relieving factors, pain relief, pain phenotype, and functional ability. Individuals in the LNA program reported an increase in the frequency of pain and the number of pain sites. Pain relief in the LNA group was also found to be higher in the LNA group than in the other clinical stages. Conclusion With the onset of the disease in patients with DMD, there has been a change in the pain characteristics, including the location, aggravating/relieving factors, pain tolerance, and pain interference.

Source link: https://doi.org/10.1186/s12891-022-05504-5

Screening 25 Dystrophin Gene Exons for Deletions in Arab Children with Duchenne Muscular Dystrophy

According to the authors, "Forty-two Arab children with Duchenne muscular dystrophy were tested for intragenic deletions in 25 exons of the dystrophin gene using three different multiplex PCR sets, each amplifying a total of 9, 9 and 6 exons, respectively. " Exon 22 was amplified individually, and it was amplified as a team. This research, the first in an Arab population and only the second to use three PCR multiplex sets, indicates one of the highest deletion detection rates in DMD.

Source link: https://doi.org/10.1159/000022783

Clinical Characteristics of Aged Becker Muscular Dystrophy Patients with Onset after 30 Years

"To clarify the clinical characteristics of elderly patients with Becker muscular dystrophy (Berman muscular dystrophy), we examined 4 patients with this disease over the past 50 years. " No apparent hypertrophy in their calves, which is known to be one of the most typical clinical findings in juvenile BMD patients. In all patients, serum creatine kinase levels were elevated, but not significantly so. BMD patients are free of muscular disease until their 50s and are still self-supporting in their 60s or 70s, so we emphasize that.

Source link: https://doi.org/10.1159/000008089

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