Perkins Professor Nigel Laing (pictured with Assistant Professor Kristen Nowak), an expert in the causes of neuromuscular diseases, has helped revolutionise the way doctors around the world will diagnose muscle dysfunction in newborn babies.
Professor Laing, who is the head of the Neurogenetics Diseases Laboratory at the Harry Perkins Institute of Medical Research, was contacted by scientists in England after the diagnosis of a baby boy in Oxford with a very rare disorder, which caused his muscles to contract strongly in spasms, but were then unable to relax.
A London laboratory analysing DNA from the baby had found a mutation in the actin gene, which was discovered by Professor Laing's laboratory in 1999 to be associated with muscle diseases of newborn children.
Since Professor Laing's discovery, world-wide identification of mutations in actin, has been shown to cause muscle weakness, sometimes called floppy baby syndrome.
Muscle biopsy of the Oxford baby showed the muscle disease nemaline myopathy which is normally associated with muscle weakness, not muscle hyperactivity.
The case in Oxford, England, turned that definition on its head and Professor Laing's team of medical researchers set to work in their laboratory in Nedlands.
"This rare mutation of the actin gene in the patient in Oxford had the opposite effect to weakness, even though it was still nemaline myopathy," said Professor Laing. "It hyper-sensitised the muscle to calcium, (calcium makes muscles contract) so when this patient contracted his muscles they hyper-contracted in a spasm and wouldn't relax. They were too active."
Professor Laing said the step forward in scientific understanding had changed the definition and perception of nemaline myopathy.
"We know of nearly 200 mutations in Actin and this is the first one like this. So it's revolutionary," he said.
Professor Laing said the discovery had also changed the view of the world for clinicians who previously would not have been thinking about this type of genetic defect when diagnosing newborns with muscle hyperactivity.
"It warns clinicians across the world, that if you see this type of hyper-contraction it can be congenital myopathy and hopefully this discovery will also lead to a therapy for this condition in the future," he said. "It's usually easier to stop something working too well, in this case the muscles contracting too strongly, rather than not well enough."
A paper on the finding has been published in Neurology, the Journal of the American Association of Neurology.