Genetic Mutation Linked to Cot Death

Alterations to a protein involved in breathing may help explain some cases of sudden infant death syndrome, a study finds.

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ISTOCK, ALEKSANDARNAKICCot death, or sudden infant death syndrome (SIDS), is associated with a rare mutation in a gene coding for sodium channel NaV1.4, according to a study published yesterday (March 28) in The Lancet. The protein plays a role in the contraction of skeletal muscles involved in breathing, and the new research, led by a team at University College London (UCL), suggests that certain variations in its structure could contribute to the death of otherwise apparently healthy infants.

“It’s a very convincing set of data,” Stephen Cannon, a neurologist at the University of California, Los Angeles who was not involved in the work, tells CNN. “In the preceding four or five years, there have been cases recognized where muscle defects cause breathing difficulties in (newborns) and young children, so it was kind of a logical extension that this might go on to progress to something like SIDS.”

SIDS accounts for up to 2,400 infant deaths per year in the U.S., and although some behaviors—such as sleeping in the same bed as parents, inhaling cigarette smoke, or lying face-down—are associated with higher risk, the majority of cases have no obvious explanation.

In the new study, UCL researchers analyzed the DNA of 278 infants who ...

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Meet the Author

  • Catherine Offord

    Catherine is a science journalist based in Barcelona.
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