Discovery of a new gene responsible for a lethal form of inherited muscle disease

Neuromuscular disorders are major causes of ongoing disability in childhood, causing progressive and disabling weakness. Children may lose the ability to walk or breathing and swallowing muscles can be affected causing respiratory failure and early death. For many children there is currently no cure.

Professor Kathryn North's paper "Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy" has been published in the December issue of the American Journal of Human Genetics.

"We have been studying a series of patients with very severe muscle disease with weakness present from birth. As part of this study we identified a family with four affected children, each with lethal neonatal congenital myopathy presenting with severe hypotonia, poor muscle development, and respiratory and swallowing difficulties. Three of the four infants died at birth; one infant survived on a ventilator until one month of age, "said Professor North.  

"After almost 10 years of research we have recently discovered the gene causing the disease in this family and a novel cause of muscle disease in humans. Our findings will allow accurate genetic diagnosis and prenatal diagnosis and prevention for the original family as well as other families from around the world with the same disorder.  Our further research will provide new insights into the disease mechanisms and potential new therapies, she continued."

Professor North's laboratory research interests focus on the molecular basis of inherited muscle disorders - particularly muscular dystrophies and congenital myopathies - as well as genes which influence normal skeletal muscle function and elite athletic performance. . Most neuromuscular disorders of childhood are genetic and more than one person in a family may be affected with severe and often progressive muscle weakness. Her clinical research focuses on clinical trials of therapies for muscular dystrophy as well as the development of interventions for children with learning disabilities.

Professor North has established the Clinical Neurogenetics Service at the Children's Hospital at Westmead which currently cares for more than 1,500 patients and their families.  She is Douglas Burrows Professor of Paediatrics and Child Health at the Children's Hospital at Westmead. She also heads the Hospital's Neurogenetics Research Unit and has recently been appointed as Head of the Institute for Neuromuscular Research. Professor North is also Head of the Discipline of Paediatrics and Child Health and Associate Dean at in The Faculty of Medicine at The University of Sydney.

She has also just been appointed Head of the Institute for NM Research.

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