The Scotsman

Potential genetic mutations link to cot death identified by scientists

- By JOHN VON RADOWITZ adalton@scotsman.com

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: “More research will be needed to confirm and fully understand this link.”

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