Search results for " Duchenne"
showing 5 items of 25 documents
Effects of low intensity endurance training on small airways of MDX mice
2009
Considerations to the policy of future clinical therapeutic trials in DMD.
2002
In spite of rapidly increasing insight into the molecular basis of neuromuscular diseases, treatment still relies on convention and clinical studies. Experience with a multicentre double blind treatment study in Duchenne muscular dystrophy and with consecutive steroid treatment documentation for up to 8 years enables us to identify a series of crucial points on which to focus while planning such clinical trials. The most important seem to be: a carefully structured, detailed study, clear-cut aims and objectives, expertise of investigators, sufficient training of examiners, and careful monitoring. If patients with neuromuscular diseases are treated outside structured studies, their course sh…
Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.
2003
Mutations in genes coding for the dystrophin-glycoprotein complex (DGC) cause inherited muscular dystrophies (MD), including Morbus Duchenne (DMD) and M. Becker (BMB) as well as limb-girdle muscular dystrophies (LGMD). New insights into the pathophysiology of the dystrophic muscle, the identification of compensatory mechanisms and additional proteins interacting with dystrophin are essential for developing new treatments. In order to define molecular mechanisms induced by lack of dystrophin and the subsequent counter-regulatory transcriptional response of degenerating muscle fibres, we have investigated the mRNA expression of 19 functionally linked genes in biopsies of patients with MD by m…
Estudio de la deleción espontánea de los exones 45–55 en el gen DMD y su aplicación como modelo de terapia génica. Análisis de factores condicionante…
2022
La deleción de los exones 45 al 55 en el gen DMD (del45-55) se ha postulado como un interesante modelo terapéutico, mediante el que se podrían beneficiar hasta 60% de pacientes con distrofia muscular de Duchenne. Sin embargo, ésta se expresa con una gran variabilidad clínica, observando sujetos asintomáticos, mientras que otros presentan debilidad muscular, así como alteraciones cardiacas severas. El objetivo de la presente tesis doctoral es llevar a cabo un profundo análisis de la del45-55 para tratar de desvelar los factores que promueven su presentación de manera asintomática, de forma que pueda replicarse como modelo de terapia para la distrofia muscular de Duchenne. Metodología Para el…
Effects of mild aerobic exercise training on the diaphragm in mdx mice
2016
Mild endurance exercise training positively affects limb skeletal muscle in the mdx mice model of Duchenne Muscular Dystrophy (DMD). However, few and controversial data are available on the effects of mild exercise training on the diaphragm of mdx mice. The diaphragm was examined in mdx and wild type mice either under sedentary conditions (mdx-SD, WT-SD) or during mild exercise training (mdx-EX, WT-EX). At baseline and after 30 and 45 days of training (5 d/wk for 6 weeks), diaphragm muscle morphology and Cx39 protein were assessed. In addition, tissue levels of the chaperonin Hsp60 were measured at the same time points in gastrocnemius, quadriceps and diaphragm in each experimental group. A…