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Altering Genes to Save Lives

The Singapore research team led by Dr Lai Poh San (seated, centre)

The NUS Department of Paediatrics, in collaboration with the International Centre for Medical Research at Kobe University School of Medicine, has made a breakthrough in the research for the treatment of Duchenne muscular dystrophy (DMD), a fatal muscle wasting disease. Using genetic engineering technology, the new technique promises to reduce the severity of the disease.

DMD, which afflicts only males, is a genetic disease caused by the absence of a protein called dystrophin. Owing to gene mutation, a defective DNA genetic code programmes the body either to produce non-functional dystrophin or not produce it at all.

Children with DMD are usually wheelchair-bound before they turn twelve. Many die from cardiac or respiratory failure before adulthood.
The NUS - Kobe research teams developed a strand of DNA with a specially-designed sequence. When introduced into the patient's genetic blueprint, the DNA strand sends out a signal to stop the deficient gene from being produced. However, another form of gene mutation occurs.

This second type of mutation produces a partially functional dystrophin protein, giving rise to a milder form of muscular dystrophy. Known as Becker muscular dystrophy (BMD), it is less life threatening. Those with BMD are able to function well into adult life with some limitations.

Muscle cell from a normal person showing presence of dystrophin

Muscle cell from a patient showing near absence of dystrophin

Current research focuses on determining the efficiency and duration of introducing the specially designed DNA strand and developing other techniques of blocking the mutation in patients while allowing the production of the fully functional normal dystrophin protein.

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