Wednesday 20 November 2019

Genetics may hold key to cot death, say scientists

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John von Radowitz

Cot death may be linked to rare genetic mutations associated with impaired breathing, research has shown.

British and US scientists have found the first clear evidence that genetics plays a role in sudden infant death syndrome (Sids).

The study focused on mutations in the SCN4A gene which helps regulate the muscular control of breathing.

Defects in the gene are associated with a range of neuromuscular disorders, some potentially life-threatening, that make breathing or speaking difficult.

Typically SCN4A mutations are very rare, occurring in fewer than five people in every 100,000. But the study uncovered harmful mutant versions of the gene in four of 278 cot death victims.

Having one of the gene variants may leave some children with weaker breathing muscles, said the researchers.

Faced with extra stresses to breathing such as tobacco smoke, getting entangled in bedding, or a minor illness or airway obstruction, they may be less able to correct their breathing, cough or catch their breath.

Professor Michael Hanna, from the Medical Research Council Centre for Neuromuscular Diseases at University College London, said: "Our study is the first to link a genetic cause of weaker breathing muscles with sudden infant death syndrome.


"It suggests that genes controlling breathing muscle function could be important in this condition. However, more research will be needed to fully understand this link."

The scientists stressed that faulty genes are probably not the sole cause of cot death, and safe sleeping measures were still essential to ensure a baby's safety.

An estimated 300 cot deaths occur each year in the UK, and 2,400 in the US. Typically, the syndrome strikes infants aged two to four months.

Although the cause of cot death is unknown, it is widely believed to be linked to breathing problems.

For the study, the researchers looked at tissue samples from 278 British and American children whose deaths remained unexplained despite thorough post-mortem investigations.

DNA from the samples was compared with that from 729 healthy adults with no history of heart, lung, or neurological disease. The findings are reported in 'The Lancet'.

Irish Independent

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