Sudden Infant Death Syndrome (SIDS), sometimes known as crib death, occurs when an infant under the age of one dies inexplicably. The typically healthy child will often die while sleeping and is the leading cause of death of children between the ages of one month and one year, claiming approximately 3000 lives a year. There has been little known about the cause of SIDS but new research is now showing that some form of SIDS could be linked to a genetic inability to digest milk.
A study out of the University of Washington School of Medicine focused on the "mitochondrial tri-functional protein deficiency, a potentially fatal cardiac metabolic disorder caused by a genetic mutation in the gene HADHA."
It found that newborns with had the genetic mutation are unable to properly digest some of the fats found in breastmilk, resulting in cardiac arrest. It found that "the heart cells of affected infants do not convert fats into nutrients properly," and once these fats build up they can cause serious heart and heart health issues.
“There are multiple causes for sudden infant death syndrome,” said Hannele Ruohola-Baker, who is also associate director of the UW Medicine Institute for Stem Cell and Regenerative Medicine. “There are some causes which are environmental. But what we’re studying here is really a genetic cause of SIDS. In this particular case, it involves a defect in the enzyme that breaks down fat.”
Some forms of Sudden Infant Death Syndrome (SIDS) are caused by a genetic mutation that disrupts processing of milk fats, a new study @RuoholaL @hannele89072027 @UWBiochemistry @UWISCRM has found @NatureComms https://t.co/g330dRupKb— UW Medicine Newsroom (@uwmnewsroom) October 11, 2019
Lead author on the study Dr. Jason Miklas said that it was his experience researching heart disease that prompted him to look at the possible link with SIDS. There was one particular study that had noted a link between children who had problems processing fats and who also had cardiac disease that caused him to delve a little deeper.
Miklas and Ruohola-Baker teamed up to begin their own research study. “If a child has a mutation, depending on the mutation the first few months of life can be very scary as the child may die suddenly,” Miklas noted. “An autopsy wouldn’t necessarily pick up why the child passed but we think it might be due to the infant’s heart-stopping to beat.”
“We’re no longer just trying to treat the symptoms of the disease,” Miklas added. “We’re trying to find ways to treat the root problem. It’s very gratifying to see that we can make real progress in the lab toward interventions that could one day make their way to the clinic.”
Ruohola-Baker says their findings are a big breakthrough in understanding SIDS. “There is no cure for this,” she said. “But there is now hope because we’ve found a new aspect of this disease that will innovate generations of novel small molecules and designed proteins, which might help these patients in the future.”