Publications by authors named "Javier Poyatos-Garcia"
Background: Distal myopathies (MPDs) are heterogeneous diseases of complex diagnosis whose prevalence and distribution in specific populations are unknown.
Methods: Demographic, clinical, genetic, neurophysiological, histopathological and muscle imaging characteristics of a MPDs cohort from a neuromuscular reference center were analyzed to study their epidemiology, features, genetic distribution and factors related to diagnosis.
Results: The series included 219 patients (61% were men, 94% Spanish and 41% sporadic cases).
Article Synopsis
- * DM1 happens because of a problem with a gene that leads to muscle issues by decreasing a protein called MBNL1. AntimiRs can help increase this protein but need to be made better for human use.
- * The treatment helped improve muscle cell problems and reduced harmful molecules in the cells, showing promise for helping different types of DM1 patients with varying genetic backgrounds.
Article Synopsis
- * Using CRISPR-Cas9, the researchers created a cell line from a DMD patient that mimics the del45-55 mutation, restoring dystrophin expression and improving myogenic properties.
- * The findings suggest that this approach can help develop better cellular models for studying DMD and understanding its underlying factors, which could inform future therapies.
Article Synopsis
- * Researchers created a cell model of LGMDD2 that mimics important disease features, like overexpressed proteins and defective muscle markers, and used CRISPR-Cas9 editing to correct the mutation.
- * The editing significantly improved the cells' conditions, with many molecular changes reverted to normal levels, highlighting CRISPR-Cas9 as a promising therapeutic tool for LGMDD2 and similar disorders.
Objective: Duchenne muscular dystrophy (DMD) exon 45-55 deletion (del45-55) has been postulated as a model that could treat up to 60% of DMD patients, but the associated clinical variability and complications require clarification. We aimed to understand the phenotypes and potential modifying factors of this dystrophinopathy subset.
Methods: This cross-sectional, multicenter cohort study applied clinical and functional evaluation.
Skeletal muscle symptoms strongly contribute to mortality of myotonic dystrophy type 1 (DM1) patients. DM1 is a neuromuscular genetic disease caused by CTG repeat expansions that, upon transcription, sequester the Muscleblind-like family of proteins and dysregulate alternative splicing of hundreds of genes. However, mis-splicing does not satisfactorily explain muscle atrophy and wasting, and several other contributing factors have been suggested, including hyperactivated autophagy leading to excessive catabolism.
View Article and Find Full Text PDFGene editing methods are an attractive therapeutic option for Duchenne muscular dystrophy, and they have an immediate application in the generation of research models. To generate myoblast cultures that could be useful in in vitro drug screening, we have optimised a CRISPR/Cas9 gene edition protocol. We have successfully used it in wild type immortalised myoblasts to delete exon 52 of the dystrophin gene, modelling a common Duchenne muscular dystrophy mutation; and in patient's immortalised cultures we have deleted an inhibitory microRNA target region of the utrophin UTR, leading to utrophin upregulation.
View Article and Find Full Text PDFMyotonic dystrophy type 1 (DM1) is a rare neuromuscular disease caused by expansion of unstable CTG repeats in a non-coding region of the gene. CUG expansions in mutant transcripts sequester MBNL1 proteins in ribonuclear foci. Depletion of this protein is a primary contributor to disease symptoms such as muscle weakness and atrophy and myotonia, yet upregulation of endogenous MBNL1 levels may compensate for this sequestration.
View Article and Find Full Text PDFArticle Synopsis
- The study focused on Laing myopathy, a muscle disorder with diverse symptoms, aiming to understand muscle imaging profiles and use them as effective outcome measures.
- Researchers analyzed data from 42 patients using MRI and CT scans, finding that intramuscular fat was present in most patients and that muscle involvement varied significantly, with some only showing symptoms in the anterior leg compartment.
- The study concludes that while the anterior leg is commonly affected, there are often broader patterns of muscle involvement, and imaging score analysis can help categorize patients based on disease progression.