Some cases of sudden infant death (SIDS) can be explained by a genetic anomaly, a mitochondrial trifunctional protein deficiency, according to a new study published yesterday in Nature Communications.
It is a cardiac metabolic disorder caused by a genetic mutation in the HADHA gene. As explained in the press release in which the study was presented, children born with this genetic abnormality are no longer able to metabolize the lipids they absorb from milk and die suddenly after a few months due to cardiac arrest.
The inability to metabolize lipids affects heart cells that are no longer able to convert fat into nutrients. This happens when enzymes can no longer complete a process called “oxidation of fatty acids.” A certain amount of fat material is then accumulated, which eventually interrupts the function of the heart. There are currently no effective treatments.
According to Ruohola-Baker, Professor of Biochemistry at the University of Washington, who led the study, the causes of the sudden infant death syndrome can be manifold. Some may have environmental causes, as discussed in the study. There is still no treatment for this particular disease, but researchers are focusing on a drug called Elamipretide, a drug used to stimulate organs, especially the heart, with oxygen deficiency. According to the researchers, parents could also be tested to see how likely they are to have a child with this genetic mutation.
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