Spatial lipidomics reveals altered lipid profiles in TMEM63A mutant rats with hypomyelination.

ABSTRACT: Hypomyelinating leukodystrophies (HLDs) are genetic disorders characterized by deficient myelination. While TMEM63A variants are associated with HLD19, the specific lipid alterations in affected brain regions remain to be fully characterized. This study aimed to investigate the spatial distribution of lipid changes in a Tmem63a mutant rat model of hypomyelination. A homozygous Tmem63a c.500G > A p.(G167E) knock-in rat model (Tmem63a^G167E/G167E) was established. Brain sections from Tmem63a^G167E/G167E and Tmem63a^WT rats (n = 3/group) were analyzed using MALDI-MSI for lipid profiling across nine distinct brain regions. Myelin structure was characterized by transmission electron microscopy (TEM) and g-ratio quantification. Statistical analyses included Mann-Whi

SUBMITTER: Wang J 

PROVIDER: S-EPMC12638909 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature