期刊
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
卷 109, 期 38, 页码 15307-15311出版社
NATL ACAD SCIENCES
DOI: 10.1073/pnas.1201632109
关键词
cystatin; genome-wide association studies; late-onset; epistasis
资金
- Velux Stiftung
- Swiss National Science Foundation [31003A_130755]
- National Center of Competence in Research program of the Swiss National Science Foundation
- Swiss National Science Foundation (SNF) [31003A_130755] Funding Source: Swiss National Science Foundation (SNF)
Alzheimer's disease (AD) is characterized by the presence of toxic protein aggregates or plaques composed of the amyloid beta (A beta) peptide. Various lengths of A beta peptide are generated by proteolytic cleavages of the amyloid precursor protein (APP). Mutations in many familial AD-associated genes affect the production of the longer A beta 42 variant that preferentially accumulates in plaques. In the case of sporadic or late-onset AD, which accounts for greater than 95% of cases, several genes are implicated in increasing the risk, but whether they also cause the disease by altering amyloid levels is currently unknown. Through loss of function studies in a model cell line, here RNAi-mediated silencing of several late onset AD genes affected A beta levels is shown. However, unlike the genes underlying familial AD, late onset AD-susceptibility genes do not specifically alter the A beta 42/40 ratios and suggest that these genes probably contribute to AD through distinct mechanisms.
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