In 1861, a French physician, Guillaume Duchenne, first described DMD as “pseudohypertrophic muscle paralysis” that preferentially afflicts males within families”. It is known as one of the most common X-linked diseases, DMD affects 1 in 3500 male newborns and is the result of mutations in the dystrophin gene. Dystrophin is one of the largest known genes in the human genome, containing 79 exons ...

In this issue, Lindsay et al, 2021 investigated if patients with Duchenne muscular dystrophy (DMD) had reduced levels of the antioxidant and arginine-NO coupling cofactor Tetrahydrobiopterin (BH4) determined supplementation BH4 DMD disease progression in mdx mouse model DMD.1 is a fatal X-linked genetic that affects approximately 1 5,000 newborn boys for which there no cure limited treatments. ...

Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease caused by a loss of the dystrophin protein. Control of dystrophin mRNA splicing to convert severe DMD to a milder phenotype is attracting much attention. Here we report a dystrophinopathy patient who has a point mutation in exon 31 of the dystrophin gene. Although the mutation generates a stop codon, a small amount of internall...

Background: Dystrophins and dystrobrevins are distantly related proteins with important but poorly understood roles in the function of metazoan muscular and neuronal tissues. Defects in them and their associated proteins cause a range of neuromuscular disorders. Members of this superfamily have been discovered in a relatively serendipitous way; we set out to compile a comprehensive description ...

introduction: duchene/ becker (dmd/bmd) muscular dystrophy is the most frequent neuromuscular disease in children which is inherited as an x-linked recessive trait. the disease is caused by partial deletion in dystrophin gene. we developed a rapid and robust method for direct identification of female carriers of deletions and duplications in the dystrophin gene, in order to prevent the affected...

Clathrin-mediated membrane trafficking is critical for multiple stages of plant growth and development. One key component of clathrin-mediated trafficking in animals is dynamin, a polymerizing GTPase that plays both regulatory and mechanical roles. Other eukaryotes use various dynamin-related proteins (DRP) in clathrin-mediated trafficking. Plants are unique in the apparent involvement of both ...

Pathogens utilize effectors to suppress basal plant defense known as PTI (Pathogen-associated molecular pattern-triggered immunity). However, our knowledge of PTI suppression by filamentous plant pathogens, i.e. fungi and oomycetes, remains fragmentary. Previous work revealed that the co-receptor BAK1/SERK3 contributes to basal immunity against the potato pathogen Phytophthora infestans. Moreov...

BACKGROUND Duchenne muscular dystrophy is a fatal genetic disorder caused by dystrophin gene mutations that result in premature termination of translation and the absence of functional protein. Despite the primary dystrophin gene lesion, immunostaining studies have shown that at least 50% of DMD patients, mdx mice and a canine model of DMD have rare dystrophin-positive or 'revertant' fibres. Fi...

Mutation in the dystrophin gene results Duchenne Muscular Dystrophy (DMD), an X-linked fatal neuromuscular disorder. Dystrophin deficiency can be compensated by upregulation of utrophin, an autosomal homologue of dystrophin. But the expression of utrophin in adults is restricted to myotendinous and neuromuscular junctions. Therefore utrophin upregulation throughout the muscle fiber can only be ...