Sydney, May 26 (Inditop) Scientists have cured mice of a devastating muscle disease that causes a Floppy Baby Syndrome (FBS) – a breakthrough that could ultimately help thousands of children globally.
A Western Australian Institute for Medical Research (WAIMR) team has restored muscle function in mice with one type of FBS, a congenital myopathy disorder that causes babies to be born without the ability to properly use their muscles.
The incurable genetic diseases severely paralyses and then kills most of the affected children before the age of one.
“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,” study co-aurhor Kristen Nowak 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.”
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.
“We had already begun investigating whether we could use heart actin to treat skeletal muscle actin disease, so that discovery spurred us on, and we’ve now proved it can be done – we can use heart actin to overcome the absence of skeletal muscle actin in mice.”
Heart actin is found in cardiac muscle and, during foetal development, it also works in skeletal muscles in the body, but by birth, heart actin has almost completely disappeared within skeletal muscle, said a WAIMR release.
These findings were published online in the Journal of Cell Biology.
