Study Identifies Genetic Mutation That May Play A Role In Sudden Infant Deaths

A collaborative effort on the part of researchers in both the United States and the United Kingdom seems to suggest that a genetic mutation may be a factor in sudden infant death syndrome.

Dr. Michael Ackerman of the Mayo Clinic in Minnesota and the co-author of the study reports that mutation that affects an impairment in breathing muscles were determined to be more prevalent in infants who had died as a result of SIDS.

The study observed the SCN4A gene which plays an important role in proper lung development. Variations in the SCN4A gene are associated with a variety of disorders of the neuromuscular system. Some of these disorders have been known to instigate potentially fatal breathing pauses as well as spasms along the vocal chords.

Professor Michael Hanna, another of the study’s co-authors, explains that the present study is the first to document a link between breathing disorders stemming from genetic predispositions to SIDS.

For the most part, mutations of this kind are rare in occurrence and are found in less than 5 of every 100,000 individuals in the population. However, these mutations were found to have occurred in four out of the 278 children observed in the study that had died from SIDS. This compared to no manifestations of the mutation in the 729 healthy babies that had been observed. Researchers are quick to point out that these mutations are not the only cause of the syndrome and infants not afflicted by these genetic mutations could possibly still be at risk for SIDS.

Experts that study Sudden Infant Death Syndrome express optimism at the new findings.

Dr. Joel L. Bass, a professor of Pediatrics working out of Harvard Medical School, says that with the identifying of each risk factor, more at-risk children can be identified and necessary precautions can be taken.

The Center for Disease Control reports that approximately 3500 babies die from SIDS annually in the United States. Possible causes identified for this phenomenon have been abnormalities with the brain, accidental suffocation, and the inability of an infant to regulate his or her own breathing. Approximately one-third of these deaths go completely unexplained.

The study included on babies of European heritage and researchers point out that applying the findings to make them applicable to the entire population is a problematic undertaking. The consensus among these researchers that took part in the study says this is evidence of the need for further studies.

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