Mutations in the sarcoglycan genes in patients with myopathy

Article Abstract:

Mutations in the genes for sarcoglycans might be responsible for some forms of muscular dystrophy. Sarcoglycans are proteins that help form the structure of muscle fibers. Researchers used antibodies against the sarcoglycans to stain muscle biopsy samples from 556 people with muscular dystrophy who had a normal dystrophin gene. Ten percent had decreased levels of sarcoglycans. In 50 of these patients, gene analysis revealed that 58% had a mutation in the sarcoglycan genes. Those with severe muscular dystrophy were most likely to have mutations in these genes.

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Ion channels - molecular divining rods hit their clinical mark

Article Abstract:

Research on ion channels has shown that defects in these channels can cause a variety of different disorders. Ion channels are responsible for transporting ions such as calcium, sodium and potassium across cell membranes. The proper function of nerves, muscles and the heart all depend on intact ion channels. A 1997 report identified a defect in a potassium channel that is associated with heart arrhythmias and hearing loss. A defect in a calcium channel has been linked to a migraine syndrome that produces symptoms similar to a stroke.

Ion channels

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The muscular dystrophies - clarity or chaos?

Article Abstract:

Research on the different kinds of muscular dystrophy is shedding light on all of the components of muscle cells and how they maintain muscle function. Duchenne and Becker muscular dystrophy are characterized by the abnormal production of the protein dystrophin. Analysis of a related disorder called limb-girdle muscular dystrophy reveals that additional proteins called sarcoglycans are also involved in muscle function. A 1997 study found that many patients with a sarcolycan deficiency had a mutation in the genes for these proteins.

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