title: Cyp46 polymorphisms in Alzheimer's disease: a review.
abstract: Increasing research findings argue for a link between brain cholesterol turnover and Alzheimer's disease (AD). High cerebral levels of this lipid increase Ass load. The elimination of cerebral cholesterol involves two mechanisms, dependent of apolipoprotein E and cholesterol 24-hydroxylase (CYP46). CYP46 is a gene associated with AD; the most studied single nucleotide polymorphism is the rs754203, which changes T-->C. Some studies describe that this polymorphism is possibly associated with loss of function of CYP46; others describe that it is possibly associated with cerebral cholesterol accumulation or an increase of CYP46 activity leading to an accumulation of the 24S-hydroxycholesterol in cerebrospinal fluid. Publications about this subject around the world are controversial. Some studies associate the T allele with AD and others the C allele. The aim of this review is to describe and summarize the findings of the researches about the relationship between CYP46 and AD that have been published in the past 9 years.
authors.affiliation: Instituto de Ciências Biológicas, UPE, Recife, Brazil.
authors.forename: Anália Nusya Medeiros
authors.initials: AN
authors.lastname: Garcia
authors.forename: Maria Tereza Cartaxo
authors.initials: MT
authors.lastname: Muniz
authors.forename: Hugo Rafael
authors.initials: HR
authors.lastname: Souza e Silva
authors.forename: Helker Albuquerque
authors.initials: HA
authors.lastname: da Silva
authors.forename: Luiz
authors.initials: L
authors.lastname: Athayde-Junior
mesh_terms: D000544:Alzheimer Disease / Q000134:cerebrospinal fluid* / Q000235:genetics* / Q000503:physiopathology; D016229:Amyloid beta-Peptides / Q000378:metabolism; D001483:Base Sequence / Q000235:genetics; D001921:Brain / Q000378:metabolism / Q000503:physiopathology; D001923:Brain Chemistry / Q000235:genetics; D002784:Cholesterol / Q000378:metabolism*; D000072556:Cholesterol 24-Hydroxylase; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics*; D013250:Steroid Hydroxylases / Q000235:genetics* / Q000378:metabolism*
chemical_list: D016229:Amyloid beta-Peptides; D005819:Genetic Markers; D002784:Cholesterol; D013250:Steroid Hydroxylases; D000072556:Cholesterol 24-Hydroxylase
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