A severe muscle disease that causes floppy baby syndrome has mystified doctors and scientists for years but now some scientists claim to have made a breakthrough in its treatment.
It results in severe paralysis for most of the babies born with it and the majority die before their first birthday.
The team from Australia was able to cure affected mice by replacing a missing muscle protein.
An expert from the UK said the findings, published in the Journal of Cell Biology, could lead to improved movement for affected babies.
The research was focused on proteins called actins. A gene called ACTA1 controls the production of actin in skeletal muscles. It is an essential part of allowing muscles to contract, but children with the disease appear to have flawed versions of the gene and therefore the protein is not produced.
However, the scientists had seen that some children with floppy baby syndrome were not completely paralysed at birth. When these children were studied, it was found that heart actin - another form of the protein - was "switched on" in their skeletal muscles, when that would not normally be the case. Heart actin is found in skeletal muscles while the baby is developing in the womb, but has almost completely disappeared by birth.
It was found that it was possible to cure mice genetically engineered to have the recessive form of the muscle disorder by replacing the missing skeletal muscle actin with heart actin.
Dr Kristen Nowak, of the Western Australian Institute for Medical Research, who led the study, said: "The mice with floppy baby syndrome were only expected to live for about nine days, but we managed to cure them so they were born with normal muscle function, allowing them to live naturally and very actively into old age.
"This is an important step towards one day hopefully being able to better the lives of human patients - mice who were cured of the disease lived more than two years, which is very old age for a mouse."
It is now anticipated that findings will be applied to human patients.
One thousand existing medicines are being analysed to see if any could increase the amount of heart actin in skeletal muscles.
Professor Dame Kay Davies said: "If we could screen every pregnancy, we could start treating this towards the end of foetal life.
"It could go some way past giving just some movement, but it probably wouldn't be possible to enable children to run around.
"However they would be likely to have a good quality of life."
Floppy baby syndrome is not the same as babies who are deemed "floppy" because the development of their gross motor skills such as sitting and crawling is delayed.
27 May 2009
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