Researchers have for the first time linked the unexplained phenomenon of cot death to a genetic mutation.
The mutations within the breathing muscles of children disrupt the control within the breathing muscles of children. These mutations disrupt the control of breathing muscle function.
Researchers found that rare genetic mutation, affecting the control of the breathing muscles, were more common in children who had died of sudden infant death syndrome (SIDS) than in the normal population. The mutation is typically found in fewer than 5 people in every 100,000, however, the study found mutations in four of the 278 children who had died of SIDS
Senior author of the paper and consultant neurologist Professor Michael Hanna said: “Our study is the first to link a genetic cause of weaker breathing muscles with sudden infant death syndrome, and suggests that genes controlling breathing muscle function could be important in this condition. However, more research will be needed to confirm and fully understand this link,”
The study looked at mutations in a gene (SCN4A) that codes for a receptor on the surface of cells in breathing muscles. Mutations in SCN4A are associated with a wide range of genetic neuromuscular disorders with life-threatening pausing in breathing and spasms of the vocal chords, which can make breathing or speaking temporarily difficult. Alterations of the SCN4A are also found in adults with neuromuscular disease and are not always lethal.
BRC-supported Professor Hanna said: “While there are drug treatments for children and adults with genetic neuromuscular disorders caused by SCN4A gene mutations, it is unclear whether these treatments would reduce the risk of sudden infant death syndrome, and further research is essential before these findings can become relevant to treatment,”
The cause of the disorder is unknown, but babies being unable to regulate their breathing is thought to be an important component. Putting babies to sleep on their back, and not sleeping in the same bed as a parent is known to reduce the risk.
Sudden infant death syndrome is the unexpected death of a seemingly healthy child. Typically, it affects children aged between 2-4 months, and accounts for 300 deaths each year in the UK.
To read the full paper see The Lancet.
