Desmosterolosis and desmosterol homeostasis in the developing mouse brain.

ABSTRACT: Cholesterol serves as a building material for cellular membranes and plays an important role in cellular metabolism. The brain relies on its own cholesterol biosynthesis, which starts during embryonic development. Cholesterol is synthesized from two immediate precursors, desmosterol and 7-dehydrocholesterol (7-DHC). Mutations in the DHCR24 enzyme, which converts desmosterol into cholesterol, lead to desmosterolosis, an autosomal recessive developmental disorder. In this study, we assessed the brain content of desmosterol, 7-DHC, and cholesterol from development to adulthood, and analyzed the biochemical, molecular, and anatomical consequences of Dhcr24 mutations on the sterol profile in a mouse model of desmosterolosis and heterozygous Dhcr24^+/- carriers. Our HPLC-MS/MS studies

SUBMITTER: Allen LB 

PROVIDER: S-EPMC6739189 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature