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Australian team reveals world-first discovery in a 'floppy baby' syndrome
Date:5/25/2009

In a world first, West Australian scientists have cured mice of a devastating muscle disease that causes a Floppy Baby Syndrome a breakthrough that could ultimately help thousands of families across the globe.

The research, published online today in the Journal of Cell Biology, reveals how a team at the Western Australian Institute for Medical Research (WAIMR) has restored muscle function in mice with one type of Floppy Baby Syndrome a congenital myopathy disorder that causes babies to be born without the ability to properly use their muscles.

The currently incurable genetic diseases render most of the affected children severely paralysed and take the lives of the majority of these children before the age of one.

Dr Kristen Nowak, lead author on the publication, said the team was extremely encouraged that it had been able to cure a group of mice born with the condition.

"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," she said.

"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."

Dr Nowak said the team was able to cure the mice with the recessive form of the genetic condition by replacing missing skeletal muscle actin a protein integral in allowing muscles to contract with similar actin found in the heart.

"Earlier in our search to tackle these diseases, we discovered a number of children who, despite having no skeletal muscle actin in their skeletal muscle due to their genetic mutation, were not totally paralysed at birth," she said.

"On closer inspection, we found it was because heart actin another form of the protein was abnormally "switched on" in their s
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Contact: Natalie Papadopoulos
natalie@capturemedia.com.au
61-040-798-4435
Research Australia
Source:Eurekalert

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