Search results for "myotonic dystrophy"
showing 4 items of 54 documents
Bioengineered in vitro 3D model of myotonic dystrophy type 1 human skeletal muscle
2021
Abstract Myotonic dystrophy type 1 (DM1) is the most common hereditary myopathy in the adult population. The disease is characterized by progressive skeletal muscle degeneration that produces severe disability. At present, there is still no effective treatment for DM1 patients, but the breakthroughs in understanding the molecular pathogenic mechanisms in DM1 have allowed the testing of new therapeutic strategies. Animal models and in vitro two-dimensional cell cultures have been essential for these advances. However, serious concerns exist regarding how faithfully these models reproduce the biological complexity of the disease. Biofabrication tools can be applied to engineer human three-dim…
Muscleblind, BSF and TBPH are mislocalized in the muscle sarcomere of a Drosophila myotonic dystrophy model
2012
SummaryMyotonic dystrophy type 1 (DM1) is a genetic disease caused by the pathological expansion of a CTG trinucleotide repeat in the 3' UTR of the DMPK gene. In the DMPK transcripts, the CUG expansions sequester RNA-binding proteins into nuclear foci, including transcription factors and alternative splicing regulators such as MBNL1. MBNL1 sequestration has been associated with key features of DM1. However, the basis behind a number of molecular and histological alterations in DM1 remain unclear. To help identify new pathogenic components of the disease, we carried out a genetic screen using a Drosophila model of DM1 that expresses 480 interrupted CTG repeats, i(CTG)480, and a collection of…
MRI findings and evoked potentials in patients with myotonic dystrophy versus facioscapulohumeral dystrophy
1997
Evoked potentials recordings have been applied to many neurological disorders, localizing the lesions in the central nervous system (CNS) pathways. Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive degenerative disease involving the muscles of the face and shoulders. On the contrary, myotonic distrophy (MD), the most frequent and severe myotonic disease, is caracterized by myotonia (delay of relaxation after voluntary contraction), muscular atrophy and dystrophic changes in non-muscular tissues. In the present investigation, patients with clinically and electromyographically verified FSHD and MD were examined using somatosensory evoked potentials (SEP) and brainstem aud…
Modeling of Myotonic Dystrophy Cardiac Phenotypes in
2018
After respiratory distress, cardiac dysfunction is the second most common cause of fatality associated with the myotonic dystrophy (DM) disease. Despite the prevalance of heart failure in DM, physiopathological studies on heart symptoms have been relatively scarce because few murine models faithfully reproduce the cardiac disease. Consequently, only a small number of candidate compounds have been evaluated in this specific phenotype. To help cover this gap Drosophila combines the amenability of its invertebrate genetics with the possibility of quickly acquiring physiological parameters suitable for meaningful comparisons with vertebrate animal models and humans. Here we review available des…