Researchers in Seattle have discovered a potential link between a gene mutation and Sudden Infant Death Syndrome (SIDS). The study, conducted by the Aaron Matthew SIDS Research Guild, included experts from Seattle Children's Research Institute and data scientists at Microsoft. They examined the genes of 144 children who died from sudden, unexplained causes.
The researchers identified variants in eight genes that had not previously been associated with SIDS. These gene variants were also found in individuals who died suddenly from other causes, such as cardiac arrest. While the presence of these gene variants does not guarantee that a child will die from SIDS, it indicates a potential risk factor.
According to UW Medicine, the study focused on mitochondrial tri-functional protein deficiency, a cardiac metabolic disorder caused by a mutation in the HADHA gene. This condition prevents newborns from metabolizing lipids found in milk, leading to potential cardiac arrest.
The findings, published in the American Journal of Medical Genetics, suggest that identifying these genetic markers could help prevent future deaths by allowing early intervention. Dr. Nino Ramirez, a lead researcher, emphasized the importance of recognizing these vulnerabilities early in life to prevent SIDS and other sudden deaths.
The research team plans to use machine learning and AI to further investigate protein interactions and gene modifiers related to SIDS. They also aim to incorporate whole genome sequencing in autopsies to enhance understanding of SIDS in forensic investigations.
This breakthrough offers hope for future treatments and preventive measures. As KOMO News reported, the discovery provides a sense of relief for parents, knowing that these genetic factors contribute to the risk of SIDS.