SCIENTISTS have discovered one of the genes that cause a muscle disease so harmful newborn babies rarely survive more than a few days.

The West Australian Institute for Medical Research co-ordinated the worldwide research that discovered the gene KLHL40, which is now known to cause 20 per cent of cases within a particular type of nemaline myopathy.

Researchers identified 19 mutations in the gene, which affects muscle development and function.

Babies with the gene mutation suffered severe muscle weakness, allowing little movement within the womb, bone fractures, respiratory failure and swallowing difficulties at birth.

Professor Nigel Laing said he had been searching for the gene since 1996.

"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," he said.

"After years of work, that has turned out to be the case."

Professor Laing said he expected prenatal and pre-implantation testing would begin soon.

The paper's lead author, Gina Ravenscroft, said the research began with a WA couple whose baby died after five days and a Turkish couple who lost three babies in a row.

Researchers expanded the study to DNA samples from families in Japan, Vietnam, France, Turkey, Italy, Israel and Sweden.

Read more from the original source:
Gene behind muscle disease in babies found

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