Medicine

Faulty gene may raise baby's risk of cot death

March 30, 2018 00:23·
Mutations in the SCN4A gene are associated with life-threatening pauses in breathing

Mutations in the SCN4A gene are associated with life-threatening pauses in breathing

Working with the University of California in Los Angeles, researchers looked at 278 cases of SIDS in the United Kingdom and USA, focusing on mutations in a gene known as SCN4A.

Sudden infant death syndrome - long regarded as an unexplained phenomenon affecting apparently healthy children under 1 - may have a genetic basis in some cases, a new study suggests.

"We are very pleased that leading researchers continue to try and identify the cause of SIDS, which leads to the death of around four babies every week in the UK", Francine Bates, CEO of The Lullaby Trust, said in a supporting statement. For years, doctors have associated this syndrome with the child's sleeping positions and exposure to cigarette smoke.

"There's a big campaign in America and in Europe called the Back to Sleep campaign that's been running for some years", Hanna told CNN. Putting babies to sleep on their back, and not having them sleep in the same bed as a parent are both measures known to reduce the risk.

The rare mutation was found in four of the children who died and none of the adults.

An accompanying editorial by Stephen C. Cannon, MD, of the University of California Los Angeles, characterized this as "compelling" evidence that these variants are at least overrepresented in SIDS, and hypothesized about the potential clinical applications of these findings.

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But researchers say one infant death is too many and across the globe, scientists are working to unravel all potential causes.

The research team included scientists from the the Mayo Clinic, University College London, St. George's University of London King's College, University of Bristoland University of Edinburgh in Britain and Copenhagen University Hospital in Denmark. He added that there are several more genes that could influence breathing muscles.

Defects in the gene are associated with a range of neuromuscular disorders, some potentially life-threatening, that make breathing or speaking hard. Vocal cords spasms make breathing or speaking temporarily hard. Babies could also be put on medications used to treat neuromuscular diseases during the most risky time, usually between two and six months. This gene is expressed in low amounts in the breathing muscles after birth but over the first couple of years of life, it increases. And the child might not be able to correct their breathing, cough or catch their breath if other factors are involved such as tobacco smoke, getting tangled in bedding, a minor illness or a breathing obstruction.

It is not known why some babies die suddenly from SIDS, but babies being unable to regulate their breathing is thought to be an important condition. It alters the shape of a "sodium pump" that maintains an electric current to stimulate muscle contraction. "We've just looked at one channel because that was where our hypothesis took us", Hanna said. Also they noted that acetazolamide may be effective to abolish attacks of respiratory and bulbar weakness in a patient with myasthenic syndrome.

Study author Prof. Michael Hanna, of University College London and the National Hospital for Neurology and Neurosurgery in the United Kingdom, says the findings might one day mean babies could be tested for these mutations and, if they are found to be at risk, potentially given a drug treatment that could lower their risk of SIDS.

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