Researchers have characterized a genetic mutation associated with some sudden infant death syndrome (SIDS) cases, KOMO News, a Seattle news radio station, reports.
A team from the University of Washington developed cardiomyocytes from human-induced pluripotent stem cells lacking hydratase subunit A (HADHA), mutations in which lead to mitochondrial tri-functional protein deficiency and possibly SIDS. SIDS causes about 1,400 deathsin the US each year, according to the Centers for Disease Control and Prevention.
As the UW team reports in Nature Communications, it found that when HADHA-mutant cardiomyocytes were given a mix of fatty acids, they resemble the disease state in that their calcium dynamics and repolarization kinetics were altered, leading to a pro-arrhythmic state. This, the researchers write, suggest HADHA is needed for functional mitochondria and indicates that infants with HADHA gene alterations cannot metabolize the fatty acids in milk.
"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," says first author Jason Miklas from UW in a statement.