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J Mol Neurosci ; 39(3): 342-5, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19705089

RESUMO

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.


Assuntos
Doença de Alzheimer/líquido cefalorraquidiano , Doença de Alzheimer/genética , Colesterol/metabolismo , Polimorfismo Genético/genética , Esteroide Hidroxilases/genética , Esteroide Hidroxilases/metabolismo , Doença de Alzheimer/fisiopatologia , Peptídeos beta-Amiloides/metabolismo , Sequência de Bases/genética , Encéfalo/metabolismo , Encéfalo/fisiopatologia , Química Encefálica/genética , Colesterol 24-Hidroxilase , Marcadores Genéticos , Predisposição Genética para Doença/genética , Humanos
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