Australian scientists have found a way to reverse one of the causes of floppy baby syndrome, a paralysing disorder that kills thousands of infants every year.
Children born with the rare genetic disorder lack a protein vital for their muscles' ability to contract, and most die in the first year.
Perth-based scientists have found they could compensate for this absence of skeletal muscle "actin" by reviving a heart gene which makes a similar protein, but finishes its work in the womb.
"We thought if it does the job during development then, if we could switch it on after birth, maybe it would compensate for this missing actin gene," says Dr Kirsten Nowak, a research fellow at the Western Australian Institute for Medical Research (WAIMR).
Mice bred to have no skeletal muscle actin were found to have normal muscle functioning, and grow to old age, when they also had a constantly firing heart actin gene.
Dr Nowak says the team's research was guided by earlier discoveries which found some children born with the disorder avoided total paralysis if their heart actin gene was "abnormally switched on".
The key, she says, is to now find a drug that could re-start this gene in humans and keep it firing into adulthood.
"At birth is when the heart protein normally gets switched off so we've got, we hope, a window where we can activate the treatment ... and possibly reverse some of the effects of the disease," Dr Nowak says.
"At the moment there is no effective therapy for these patients ... they can be put on respirators but that's not a therapy its a way of keeping them alive."
Work is underway to assess more than a thousand drugs already approved for human use, in the hope of finding one with the desired side-effect of causing the heart actin gene to fire.
Dr Nowak says in a "best case scenario" a new treatment for the disorder could become available in as little as 12 months.
The research project was centred at the WAIMR laboratory but was a collaborative effort also taking in scientists in the UK and USA.
The results are published in the Journal of Cell Biology.
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