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: Anália Nusya Medeiros Garcia, Maria Tereza Cartaxo Muniz, Hugo Rafael Souza e Silva, Helker Albuquerque da Silva, Luiz Athayde-Junior
• Journal: Journal of molecular neuroscience : MN (J Mol Neurosci) Vol. 39 Issue 3 Pg. 342-5 (Nov 2009) ISSN: 1559-1166 [Electronic] United States
• PMID: 19705089 (Publication Type: Journal Article, Review)

Chemical References

• Amyloid beta-Peptides
• Genetic Markers
• Cholesterol
• Steroid Hydroxylases
• Cholesterol 24-Hydroxylase

Topics

• Alzheimer Disease (cerebrospinal fluid, genetics, physiopathology)
• Amyloid beta-Peptides (metabolism)
• Base Sequence (genetics)
• Brain (metabolism, physiopathology)
• Brain Chemistry (genetics)
• Cholesterol (metabolism)
• Cholesterol 24-Hydroxylase
• Genetic Markers
• Genetic Predisposition to Disease (genetics)
• Humans
• Polymorphism, Genetic (genetics)
• Steroid Hydroxylases (genetics, metabolism)