MALDI-IM-MS Imaging of Brain Sterols and Lipids in a Mouse Model of Smith-Lemli-Opitz Syndrome.

ABSTRACT: Smith-Lemli-Opitz syndrome (SLOS) is a neurodevelopmental disorder caused by genetic mutations in the DHCR7 gene, which encodes the enzyme 3β-hydroxysterol-Δ ⁷ -reductase (DHCR7) that catalyzes the last step of cholesterol synthesis, resulting in deficiency in cholesterol and accumulation of its precursor, 7-dehydrocholesterol (7-DHC). To understand how the brain regions are differentially affected by the defective Dhcr7, we aim to map the regional distribution of sterols and other lipids in neonatal brains from a Dhcr7 -KO mouse model of SLOS, using mass spectrometry imaging (MSI). MSI enables spatial localization of biomolecules in situ on the surface of a tissue section, which is particularly useful for mapping the changes that occur within a metabolic di

SUBMITTER: Li A 

PROVIDER: S-EPMC10592934 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature