Medicine

Sudden infant death syndrome linked to a rare genetic mutation

Sudden infant death syndrome linked to a rare genetic mutation

The newly discovered genetic mutation causes a dysfunction in the management of low oxygen levels in the infant's blood, researchers said.

Mutations in this gene can cause a range of genetic neuromuscular disorders, as well as life-threatening pauses in breathing and vocal chord spasms that can make breathing temporarily hard.

It seems that this mutation affects the respiratory muscle function and was associated with a number of sudden infant death syndrome cases.

Researchers have identified a potential genetic link for some cases of sudden infant death syndrome, the often unexpected and unexplained death of healthy children under 1. However, their study found that harmful mutant versions of the SCN4A gene - which helps regulate the muscular control of breathing - were present in four of 278 children who died of SIDS.

The DNA from the samples were compared with those from 729 healthy adults without history of lung, heart, and neurological disease.

According to official figures published at the beginning of January in the United States, about 3,500 babies die every year during sleep.

That advice still stands, the authors said. They also wanted to see if mutations affected the cell surface receptor that the gene codes.

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The authors conclude that the disruptive variants are over-represented in this group, and could indicate a genetic element of sudden infant death syndrome.

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

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. 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. "However, more research will be needed to confirm and fully understand this link", said the study's senior author Professor Michael Hanna, a consultant neurologist at the NHNN and director of the UCL Institute of Neurology.

They stress that the gene mutation is probably not the sole cause of death, however, and safe sleeping measures for babies are still essential to ensure safety. Every year, about 2,400 children are dying because of it in the United States. "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".

The study looked exclusively at children with European ancestry, so the results may not be generalizable to people from other ethnic backgrounds. Instead, the federal health agency promotes breastfeeding which has been found to reduce a baby's risk of crib death by up to 50 percent.

"There must be a vulnerability, and what we're saying is that in some cases, the sodium channel is rendering them vulnerable". The reasons for this decline are debated, but it could be due to methodological reasons (eg, changes in reporting or advances in diagnosis of specific diseases) or a reduction of risks, such as an increase in supine sleeping position for infants, as advocated by the Back to Sleep campaign.


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