AIMS Duchenne muscular dystrophy (DMD) is a severe striated muscle disease due to the absence of dystrophin. Dystrophin deficiency results in dysfunctional sodium channels and conduction abnormalities in hearts of mdx mice. Disease progression in the mdx mouse only modestly reflects that of DMD patients, possibly due to utrophin up-regulation. Here, we investigated mice deficient in both dystro...

Introduction The integrity of the animal cell membrane is believed to be maintained in part by the large (approx. 400 kDa) cytoskeletal proteins dystrophin and utrophin. Both proteins are capable of forming a link, probably flexible and potentially extensible/compressible, between the actin cytoskeleton and the cell membrane itself. Utrophin is expressed in all cell types, whereas dystrophin ex...

PREDICTING THE SEVERITY OF DUCHENNE MUSCULAR DYSTROPHY: IMPLICATIONS FOR TREATMENT To the Editor: Variability in disease severity in Duchenne muscular dystrophy (DMD) is considered a biological phenomenon, possibly due to genetic or epigenetic mechanisms. It was exciting to read the article by Pegoraro et al.1 describing the discovery of osteopontin as a possible modifier gene. As discussed in ...

In This Issue In This Issue trophin, a member of the spectrin superfamily of actin-binding proteins ubiquitously expressed in human cells, helps link the actin cytoskeleton to the extracellular matrix. Galkin et al. report on page 231 that a newly developed image analysis method identifies two different modes of utrophin binding to F-actin. The findings contradict earlier studies on utrophin–ac...

Duchenne muscular dystrophy (DMD) is a lethal, X-linked muscle-wasting disease caused by lack of the cytoskeletal protein dystrophin. There is currently no cure for DMD although various promising approaches are progressing through human clinical trials. By pharmacologically modulating the expression of the dystrophin-related protein utrophin, we have previously demonstrated in dystrophin-defici...

  Background and Objective: Becker Muscular Dystrophy (BMD) is a subtype of dystrophinopathies and designated as “mild form of dystrophinopathy”. The frequency rate of the disease is 1:18000 to 1:30000 in different populations and the symptoms are presented at about 8-9 years of age. The diagnostic panel composed of Serum Ceratin Kinase (SCK) measurement, Electromyography (EMG), and as a major...

In This Issue In This Issue trophin, a member of the spectrin superfamily of actin-binding proteins ubiquitously expressed in human cells, helps link the actin cytoskeleton to the extracellular matrix. Galkin et al. report on page 231 that a newly developed image analysis method identifies two different modes of utrophin binding to F-actin. The findings contradict earlier studies on utrophin–ac...

The extraocular muscles are one of few skeletal muscles that are structurally and functionally intact in Duchenne muscular dystrophy. Little is known about the mechanisms responsible for differential sparing or targeting of muscle groups in neuromuscular disease. One hypothesis is that constitutive or adaptive properties of the unique extraocular muscle phenotype may underlie their protection i...

Duchenne muscular dystrophy (DMD) is a fatal disease caused by defects in the gene encoding dystrophin. Dystrophin is a cytoskeletal protein, which together with its associated protein complex, helps to protect the sarcolemma from mechanical stresses associated with muscle contraction. Gene therapy efforts aimed at supplying a normal dystrophin gene to DMD muscles could be hampered by host immu...