Cyp46 Polymorphisms in Alzheimer’s Disease: A Review
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- Garcia, A.N.M., Muniz, M.T.C., Souza e Silva, H.R. et al. J Mol Neurosci (2009) 39: 342. doi:10.1007/s12031-009-9227-2
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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.