Scientists have used gene therapy to improve the health of sick mice

A team of researchers from the University of Tokyo has, using gene therapy, managed to improve the strength, motor skills, and life span of mice with two different neuromuscular diseases. The study has raised hopes that, one day, similar therapies could be used to treat humans with a range of muscular disorders such as muscular dystrophy and amyotrophic lateral sclerosis.

The term neuromuscular disorder is an umbrella term that refers to several different diseases that either affect the muscle directly, resulting from problems with the muscle structure, or indirectly, resulting from faulty signaling between nerves and muscle. This signaling occurs at the neuromuscular junction, which is the interface between neurons and muscle fibers.

Previous work in this area has shown that a certain protein, known as Dok-7, is essential for the proper formation of the neuromuscular junction. Certain neuromuscular diseases, such as familial limb-girdle myasthenia, are known to be caused by a defective DOK7 gene. This mutant gene results in the production of a faulty Dok-7 protein, which prevents the neuromuscular junction from forming properly.

As a result of this, patients experience progressive muscle wastage that often causes the individual to be wheelchair-bound and have breathing difficulties. Sometimes, the muscle loss can be so severe that patients die from a weakened heart. Similarly, mice missing a functional DOK7 gene are severely underweight and die at a young age.

Read more about the story at Science Magazine.

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