Sjögren‐Larsson syndrome
https://pmc.ncbi.nlm.nih.gov/articles/PMC11608845
Sjögren-Larsson syndrome (SLS) is a rare neurological disease characterised by hypomyelination and lipid accumulation. SLS is caused by the loss-of-function of the ALDH3A2 gene that encodes the FALDH enzyme involved in lipid metabolism. In this study, researchers used special stem cells (induced pluripotent stem cells or iPSCs) from SLS patients to investigate SLS pathophysiology. This cellular model allowed them to specifically grow brain-supporting cells called oligodendrocytes, which help with myelin formation. They found that these patient-derived cells had too much of a certain type of fat called ether phospholipids, which is consistent with a previously reported result showing the accumulation of such lipids in the brain tissue of an SLS patient. These data suggest that using patient-derived iPSCs may help better understand the lipid accumulation observed in SLS patients.