Sudden Infant Death Syndrome Has Genetic Basis

Cot death could partly be down to genetic mutation, say researchers

Also known as cot death, SIDS is the unexplained death of seemingly healthy babies less than a year old.

The phenomenon has always been known to be associated with sleeping positions, such as when babies sleep on their stomachs, and second-hand exposure to cigarette smoke, according to Hanna.

They found general mutations in the SCN4A gene in six of the infants who died and nine of the controls.

The new study looked in a different direction, at the prevalence of mutations in the SCN4A gene that codes for an important cell surface receptor.

In a new study, researchers examined the genomes of 278 babies who died from the unusual phenomenon and then compared them to samples obtained from 729 adults in the United Kingdom who've never been diagnosed of any cardiovascular, respiratory, or neurological disease.

"I think the evidence is pretty compelling that some cases of SIDS are caused by sodium channel mutations", said Dr Michael Hanna who is a professor of clinical neurology at University College London and a leading author of the study. There was also a drug which could potentially be given to babies born with the mutation to try to protect them at least for the first few months of life.

The shared genetic basis between these adult muscle disorders and some cases of SIDS could impact the screening and counseling of prospective parents with known skeletal muscle disorders, Cannon suggests. He explained that though four may seem too small a number, this is only normal in rare medical disorders.

Working with the University of California in Los Angeles, researchers looked at 278 cases of SIDS in the United Kingdom and U.S., focusing on mutations in a gene known as SCN4A. All of the children had European ancestry, including 84 from Britain and 194 from the United States who had died.

However, Hanna cautioned that the mutation was found in only 1.4% of the infants who died of SIDS, meaning the vast majority of cases are still probably caused by a host of other factors. "That obviously requires further research into all these other genes".

Ensuring the safety of a child's sleep environment significantly reduces the risk of SIDS and other causes of sleep-related infant death.

The mutation could cause the cell receptor to become more commonly used, leaving these children with weaker breathing muscles, and, if an external stressor impacts their breathing (such as tobacco smoke, getting tangled in bedding, a minor illness or a breathing obstruction), they may be less able to catch their breath.

What this means for the future of SIDS prevention is unclear.

SIDS accounts for up to 2,400 infant deaths per year in the US, 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.

The authors noted that sodium channel blockers such as mexiletine can reduce the frequency and severity of myotonia in at-risk patients.

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