000008222 001__ 8222
000008222 005__ 20240129154753.0
000008222 0247_ $$2DOI$$a10.6083/bg257f59s
000008222 037__ $$aIR
000008222 245__ $$aCharacterizing blood-brain sterol pathways in individuals with deficient sterol 27-hydroxylase (CYP27A1) enzyme activity
000008222 260__ $$bOregon Health and Science University
000008222 269__ $$a2020
000008222 336__ $$aAbstract
000008222 520__ $$aAberrant cholesterol metabolism is thought to play an important role in brain pathophysiology for many neurodegenerative disorders. How sterol metabolism impacts cerebral accumulation of toxic sterol species is not fully characterized. The brain houses 20-25% of total body cholesterol in a de novo synthesized pool unable to traverse the BBB. Formation of 7a-hydroxy-3-oxo-4-cholestenoic acid (7-HOCA) by the sterol 27-hydroxylase (CYP27A1) enzyme is one route of cerebral cholesterol removal, with flux of 7-HOCA demonstrated to occur across the BBB into the periphery. Deficient CYP27A1 activity is associated with cerebrotendinous xanthomatosis (CTX); a rare genetic disorder that can cause irreversible neurological decline associated with formation of cerebellar xanthomas, consisting mostly of cholesterol and a saturated analogue, cholestanol.
000008222 540__ $$fCC BY
000008222 542__ $$fIn copyright - joint owners
000008222 650__ $$aXanthomatosis, Cerebrotendinous$$031510
000008222 650__ $$aBlood-Brain Barrier$$015687
000008222 650__ $$aGenetic Diseases, Inborn$$033830
000008222 6531_ $$acholesterol metabolism
000008222 6531_ $$asterol 27-hydroxylase
000008222 6531_ $$acerebral cholesterosis
000008222 6531_ $$aleukodystrophies
000008222 691__ $$aSchool of Medicine$$041369
000008222 692__ $$aDepartment of Chemical Physiology and Biochemistry$$041400
000008222 7001_ $$aVan Grouw, Alexandria$$uOregon Health and Science University$$041354
000008222 7001_ $$aDamekar, Shraddha$$uOregon Health and Science University$$041354
000008222 7001_ $$aMerkens, Louise$$uOregon Health and Science University$$041354
000008222 7001_ $$aPappu, Anuradha$$uOregon Health and Science University$$041354
000008222 7001_ $$aDuell, Barton$$uOregon Health and Science University$$041354
000008222 7001_ $$aDeBarber, Andrea$$uOregon Health and Science University$$041354
000008222 711__ $$aResearch Week$$uOregon Health and Science University$$d2020
000008222 8564_ $$9aa021bd0-32f8-4de5-aead-ef352fcb690d$$s51055$$uhttps://digitalcollections.ohsu.edu/record/8222/files/Alexandria-Van-Grouw.pdf
000008222 905__ $$a/rest/prod/bg/25/7f/59/bg257f59s
000008222 980__ $$aResearch Week