Neural symptoms in a gene knockout mouse model of Sjögren-Larsson syndrome are associated with a decrease in 2-hydroxygalactosylceramide

What is it about?

Sjögren-Larsson syndrome (SLS) is a hereditary neurocutaneous disorder characterized by myelin abnormalities. SLS is caused by mutations in the fatty aldehyde dehydrogenase ALDH3A2, whose gene product protects cells from aldehyde toxicity. This study found reduced levels of 2-hydroxygalactosylceramide, which is important for myelin maintenance and function, in the brain of Aldh3a2 knockout (KO) mice. Aldh3a2 KO mice exhibited SLS-like symptoms such as motor dysfunction and increased anxiety-like behavior toward light. Our results suggest that the neurological symptoms of SLS are caused by a decrease in 2-hydroxygalactosylceramide levels due to impairment of the enzyme responsible for its synthesis, probably a consequence of modification by aldehydes. This study provides insight into the mechanisms by which abnormal lipid metabolism can cause neurological disorders.

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