A rare genetic mutation affecting the muscles controlling the lungs may be responsible for some cases of sudden infant death syndrome, researchers report today.
Researchers found the mutation in four cases of children who died from SIDS in a case control study. The researchers studied 278 of these children.
Analysis of 729 healthy controls found no instances of the mutation, which is thought to affect fewer than five in every 100,000 people and is associated with conditions such as myotonia, myopathy and myasthenic syndrome – for which drug therapies exist.
The researchers studied mutations in the SCN4A gene which controls skeletal muscle sodium ion channel proteins.
The children in the study died in the UK and the USA and were all of Caucasian European ancestry, the researchers report in The Lancet.
Researcher Professor Michael Hanna, of the National Hospital for Neurology and Neurosurgery, UK, 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.
“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.”
Roope Männikkö et al. Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study. The Lancet 28 March 2018; doi:10.1016/S0140-6736(18)30021-7
Link: http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(18)30021-7/fulltext
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