Updated on 10 June 2013
Researchers identified 19 mutations in KLHL40, which plays a major role in muscle development and function
Singapore: One of the genes which causes a muscle disease so severe that newborn babies rarely survive beyond a few days has been discovered by an international team of scientists, coordinated by The University of Western Australia affiliate, the Western Australian Institute for Medical Research (WAIMR).
WAIMR's Laboratory for Molecular Genetics, headed by UWA Winthrop Professor Nigel Laing and globally recognized for its research into an inherited condition known as nemaline myopathy, coordinated a worldwide research effort that led to the discovery of the gene KLHL40. The gene is now known to cause 20 percent of cases within a particularly severe version of the disease.
Researchers identified 19 mutations in KLHL40, which plays a major role in muscle development and function. Babies with the gene mutation had severe muscle weakness allowing little movement within the womb, as well as fractures, respiratory failure and swallowing difficulties at birth.
"I've wanted to find these genes since 1996, so it's a fantastic step forward," Professor Laing said. "Even 17 years ago we felt this disease was a different level of severity of nemaline myopathy so it was likely to be a different group of muscle proteins involved. After years of work, that has turned out to be the case," he said. "We've been contacted by doctors from around the world asking when they can use prenatal screening for prospective parents with a family history or symptoms during pregnancy."
He added, "Now that this study has been published in The American Journal of Human Genetics, prenatal and pre-implantation testing can go ahead. It's a great result."