SOME babies are genetically hardwired to be at risk of sudden infant death syndrome, experts have discovered.
Scientists say a genetic anomaly preventing newborns from metabolising milk could cause them to suddenly suffer heart failure.
The research, by the University of Washington, is the first to make an explainable link between the mutation and SIDS, which claims the lives of more than 3,000 infants a year.
Newborns with mitochondrial tri-functional protein deficiency (MTP) can’t metabolise the lipids – unprocessed fats – found in milk, and die suddenly of cardiac arrest when they are a couple of months old.
Professor Hannele Ruohola-Baker, who headed the multi-institutional study, said: “There are multiple causes for sudden infant death syndrome.
“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 defect in the enzyme that breaks down fat.”
Jason Miklas, a postdoctoral fellow at Stanford University and lead author on the paper, started looking into it while researching heart disease.
He noticed a study that had examined children who couldn’t process fats and who had cardiac disease that could not be readily explained.
Along with Prof Ruohola-Baker, they started looking into why heart cells, grown to mimic infant cells, were dying in the petri dish where they were being grown.
What is SIDS and how can you protect your baby?
Sudden infant death syndrome, also called cot death, is the sudden, unexpected and unexplained death of an apparently healthy baby.
Most deaths happen during the first six months of a baby’s life.
Infants born prematurely or with a low birthweight are at greater risk.
SIDS also tends to be slightly more common in baby boys.
The exact cause is unknown. Experts believe SIDS occurs at a particular stage in a baby’s development, and that it affects babies who are vulnerable to certain environmental stresses.
To reduce the risk of cot death or sudden infant death syndrome (SIDS), babies should always be put to sleep on their backs.
Here’s the key points you NEED to know:
- Always place your baby on their back to sleep
- Place your baby in the “feet to foot” position, with their feet touching the end of the cot, Moses basket, or pram
- Keep your baby’s head uncovered. Their blanket should be tucked in no higher than their shoulders.
- Let your baby sleep in a cot or Moses basket in the same room as you for the first six months.
- Use a mattress that’s firm, flat, waterproof and in good condition.
- Breastfeed your baby
- Don’t smoke during pregnancy or let anyone smoke in the same room as your baby
- Don’t sleep on a bed, sofa or armchair with your baby
- Don’t let your baby get too hot or too cold
He said: “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.
“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. We’re trying 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.
Hope for future
In MTP deficiency, the heart cells of affected infants do not convert fats into nutrients properly.
This results in a build-up of unprocessed fatty material that can disrupt heart functions.
More technically, the breakdown occurs when enzymes fail to complete a process known as fatty acid oxidation.
While there is no cure, its hoped that the research could help contribute to future treatments, including advanced screening to check for the genetic mutation in babies.
One drug the group is focusing on now is Elamipretide, which is used to stimulate hearts and organs that have oxygen deficiency, but was barely considered for helping infant hearts, until now.
Prof Ruohola-Baker said: “There is no cure for this, but there is now hope.
“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.”
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