Studying disease in a dish

UW study links some forms of sudden infant death syndrome to genetic mutation

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A new study by UW Medicine has identified a genetic link for some instances of sudden infant death syndrome (SIDS). The study was the first of its kind to seek a tangible link between the mechanisms of a genetic mutation in the HADHA gene, which allows for fully functional fatty acid oxidation a process in which fatty acids are broken down to produce energy and some forms of SIDS. 

By linking SIDS with the genetic mutation, scientists are now able to work toward creating new molecule drug treatments to help children born with this deficiency. 

According to the National Institute of Child Health and Human Development, SIDS is the leading cause of death for infants between 1 month and 1 year of age. SIDS claimed the lives of 1,360 infants in 2017, the most recent year for which statistics are available. 

Hannele Ruohola-Baker, professor of biochemistry and associate director at the Institute for Stem Cell and Regenerative Medicine at the UW, led the multi-institutional study. The findings of the study were published Oct. 11 in Nature Communications, a peer-reviewed scientific journal.

Jason Miklas, who received his Ph.D. at the UW and is now a postdoctoral research fellow at Stanford University, was the lead author of the paper

Working with Ruohola-Baker, Milkas began to study why heart cells, grown to resemble infant cells, were dying in the petri dishes where they were being grown.

Certain methods have previously been used to study human disease in laboratories, but according to the research paper, no maturation techniques had been developed to mature the heart cells used in the study to an adult state. 

Therefore, the Ruohola-Baker lab utilized new methods. 

“From my Ph.D. work, I generated a microRNA maturation cocktail (MiMaC), a tool that drives cardiomyocyte maturation and enables the more proficient study of human cardiac diseases in a petri dish,” Miklas said. 

Miklas’ work received the UW Graduate School’s distinguished dissertation award for biological sciences.

The study found that genetic mutations in the HADHA gene impair fatty acid oxidation and cause mitochondrial trifunctional protein (MTP/TFP) deficiency. The result of MTP/TFP deficiency in infants is SIDS, which manifests after birth. 

Newborns with the HADHA mutation are unable to metabolize the lipids found in breast milk and infant formula and may die of cardiac arrest. 

According to Miklas, MTP/TFP deficiency has no known cure. He said that clinics traditionally provide rudimentary dietary supplements because before the study, the underlying mechanism of the disease, the HADHA mutation, was unknown. 

“We were able to now move forward and find specific therapeutics that could help rescue this specific issue in the cell,” Miklas said. “It was very gratifying to see that we could really take a problem in the clinic and bring it to the point where we are on the path to finding novel interventions that could one day make their way to the clinic.”

Ruohola-Baker is also excited about the possibilities of preventing the tragic outcome of the HADHA mutation. 

Because Ruohola-Baker’s family friends in Finland lost their child to SIDS, she understands the agony that parents go through when they lose a child unexpectedly. 

“There’s lots of emotional turmoil that comes with it,” Ruohola-Baker said. “It’s just the awful, terrible fact that you have a beautiful newborn and you suddenly lose the life of that child.” 

Ruohola-Baker said she has received emails from parents who have lost children due to SIDS and are interested in what the new discovery means. However, many of the families she has heard from have had a difficult time understanding the technical terms of the paper. 

“The big issue is that the paper, as it is, is impenetrable for them,” Ruohola-Baker said. “It is very hard for them to understand the technical text.” 

Looking toward the future, Ruohola-Baker hopes that prospective parents are aware of the new SIDS research, as it may push parents to test whether they are carriers of the mutation. The knowledge of whether a child has the HADHA gene mutation can help treat the disease through new molecule drug techniques.

“I am very hopeful and I am very excited about the idea that we can now offer something more than just changing the [infants’] diet for these parents who just want the best for their children,” she said. 

Reach contributing writer Karina Patel at Twitter: @karinappatel

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