Rare Muscle Disease Gene Discovered

Yvonne Cunningham & Prof Nigel Laing

The discovery of a gene linked to a rare genetic disorder that affects muscles in the forearms and lower legs, is likely to help find ways of tackling symptoms of the disease. Laing early-onset distal myopathy, named after WAIMR Professor Nigel Laing, strikes sufferers as young as four. The disease can cause a condition known as 'foot drop', where weakness in the lower leg muscles stops sufferers being able to pull up their feet. Professor Laing and his team, in collaboration with researchers from around the world, pinpointed the gene causing the disorder.

The breakthrough, which was detailed in the American Journal of Human Genetics, means a more accurate diagnosis for patients and provides hope of treating the disease. The discovery has led to world-wide interest, with DNA samples from around the globe being sent to Perth for testing for the condition.

Sufferers of Laing early-onset distal myopathy have a 50% chance of passing on the condition to their children. Professor Laing's group was recently awarded $1.67 million in NHMRC grants to continue work in this field.

Key Finding in Rare Muscle Disease

Dr Kristen Nowak & Prof Nigel Laing

WA researchers have helped discover a number of children suffering from rare muscle diseases whose bodies have 'switched on' a gene that is usually turned off at birth. The finding, published in Annals of Neurology, a leading international neurology journal, stems from work led by Professor Nigel Laing and Dr Kristen Nowak of WAIMR's Laboratory for Molecular Genetics and done in collaboration with a number of European researchers.

The team 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 researchers were intrigued and upon investigation, found that while the children did not have any skeletal actin in their skeletal muscle, they had another form of the protein, known as heart actin, in their skeletal muscles. It appeared that the more heart actin they had in their skeletal muscles, the more movement they had. Heart actin is normally switched off by the body in our skeletal muscles around birth.

If the researchers can find out how to switch the heart actin back on, they could uncover new treatments for this group of devastating muscle diseases