Key finding in rare muscle disease

Armen Hareyan's picture
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Professor Laing said his team had discovered a number of children across Europe who, despite a complete absence of the crucial skeletal muscle protein actin, were not totally paralysed at birth, and managed to have some muscle movements.

The finding is in the current issue of Annals of Neurology, a leading international neurology journal, in work led by Professor Nigel Laing and Dr Kristen Nowak of the Laboratory for Molecular Genetics at the Western Australian Institute for Medical Research (WAIMR) and done in collaboration with a number of European researchers.

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"This intriguing finding led us to look deeper and what we saw is that while these children do not have any skeletal actin in their skeletal muscle, they have another form of the protein, known as heart actin, in their skeletal muscles," said Professor Laing.

"It appears the more heart actin they have in their skeletal muscles, the more movement they have."

Professor Laing said the finding was providing much excitement.

"Before we are born, we all have both skeletal muscle and heart actin in our skeletal muscles, but around the time of birth, we switch off the heart actin

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