Sudden Infant Death Syndrome Linked To Rare Genetic Mutation

Sudden Infant Death Syndrome Linked To Rare Genetic Mutation

Sudden Infant Death Syndrome Linked To Rare Genetic Mutation

"An interesting spin-off to this study is whether the couple of thousand people who have these inherited muscle diseases in the United States should be advised and whether we should change the recommendations for how their infants are cared for", he said. The team discovered that four of the SIDS babies, and none of the controls, harbored a rare mutation in the gene coding for NaV1.4, SCN4A.

In a new study, researchers examined the genomes of 278 babies who died from the odd 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.

In a study of 278 children who died of cot death, researchers found four cases of the mutation, while there were none in a parallel group of 729 healthy controls.

Researchers say babies who die from SIDS are more likely to have a rare mutation of the SCN4A gene, which is associated with weaker breathing muscles. The expression of this cell receptor in breathing muscles is low at birth and increases over the first two years of life.

These mutations are associated with a series of genetic neuromuscular problems such as myopathies, myasthenic syndromes, and respiratory difficulties. Mutations can cause a number of conditions, which include spasms that can make breathing and speaking impossible. It was present in four out of the 278 cases of SIDS that they analyzed.

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Nonetheless, it's important to note that only 1.4 percent of the American babies had the mutation.

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.

The authors theorized that the mutation could weaken the breathing muscles in these children. If other factors hamper breathing, such as getting tangled in a bed or inhaling tobacco smoke, it could mean they can't breathe properly.

"The respiratory muscles probably have about a hundred different ion channels that are ultimately responsible for normal contraction and relaxation of respiratory muscles".

Hanna and Ackerman noted that the study has several limitations, including the fact that all the participants were white and of European ancestry, so it's unclear whether other racial and ethic groups would be affected in the same way. "We've just looked at one channel because that was where our hypothesis took us", Hanna said to CNN. "There are already medications available that can inhibit or block sodium channels and could, therefore, be very beneficial to get the patient past the period of vulnerability", Cannon said. This way, they reduce the possibility of the syndrome by 60%. "Previously the whole focus of trying to understand it was either the heart or the brain cells controlling breathing", said Professor Michael Hanna of the MRC Centre for Neuromuscular Diseases at University College London, one of the authors of a new paper in the Lancet medical journal.

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