Open AccessPolymorphism in the Cholesterol 24S-Hydroxylase Gene (CYP46A1) Associated with the APOEυ3 Allele Increases the Risk of Alzheimer’s Disease and of Mild Cognitive Impairment Progressing to Alzheimer’s Disease
Author(s) -
Valentina Fernández del Pozo,
María Fernanda Álvarez,
Manuel Fernández Martínez,
L. Galdós Alcelay,
Fernando Gómez Busto,
José A. Peña,
Miguel Á. AlfonsoSánchez,
Juan José Zarranz Imirizaldu,
Marian M. de Pancorbo
Publication year - 2006
Publication title -
dementia and geriatric cognitive disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.026
H-Index - 110
eISSN - 1421-9824
pISSN - 1420-8008
DOI - 10.1159/000090215
Subject(s) - allele , apolipoprotein e , alzheimer's disease , medicine , genotype , disease , cholesterol , endocrinology , dementia , polymorphism (computer science) , cognitive decline , allele frequency , genetics , psychology , biology , gene
Late-onset Alzheimer's disease (LOAD) is associated with changes in certain proteins, such as ApoE and Cyp46A1, of the elimination route for cerebral cholesterol. The main lipoprotein involved in its transport is ApoE whose Epsilon4 allele is the least efficient. However, the presence or absence of this allele does not determine the development of LOAD, which implies the existence of other susceptibility factors associated with the disease, such as the CYP46A1 gene that encodes the enzyme cholesterol 24S-hydroxylase.