Researchers from a Western Australian WA Institute for Medical Research (WAIMR) claimed to have successfully treated mice with impaired muscle function- a breakthrough that they believe could ultimately help treat thousands of infants suffering from FBS caused due to protein deficiency at the time of birth.
The WAIMR researchers, who reported their findings online in the Journal of Cell Biology, claimed they have restored muscle function in mice with one type of FBS by replacing a missing muscle protein.
“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,” Kristen Nowak, the lead author of the study, 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.”
How scientists cured affected mice
Nowak said the team was able to cure affected mice, who were genetically engineered to have the recessive form of the muscle disorder, by replacing their missing protein, called skeletal muscle actin that allows the muscles to contract, with another, known as heart actin, which is found in cardiac
muscle. This procedure reversed the effects of the disease, he said.
“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.”
Now, the researchers intend to apply their findings to human patients. They hope the breakthrough discovery could lead to improved movement for babies born with the recessive form of the muscle disorder.
"Basically we hope that we may be able to find a drug that will make the heart gene work in skeletal muscles," said Professor Nigel Laing, co-author of the study.
"Before we are born we actually have the heart actin gene switched on in our skeletal muscles and we all normally switch it off by the time we're born and we don't know why we switch it off, but we do so. Basically we're hoping to find some way of switching it back on again."
About floppy baby syndrome
Floppy baby syndrome, also called hypotonia, is an abnormal condition among newborns and infants manifested by inadequate tone of the muscles. This congenital myopathy disorder that causes babies to be born without the ability to properly use their muscles can be due to a multitude of different neurologic and muscle problems.
Infants born with the condition seem to be floppy and feel like a "rag doll" when held. This incurable genetic disease severely paralyses and then kills most of the affected children before the age of one. Reduced muscle tone, muscle weakness, weak infant suck, feeble cry and lethargy are some symptoms of FBS.
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