초록 |
The sequencing of the amino acids in the β-amyloid and the cloning of the amyloid precursor protein(APP) gene were the breakthrough events in the molecular biologic researches about the Alzheimer"s disease. After then, the mutations in the APP gene, presenilin 1 gene and presenilin 2 gene associated with the familial Alzheimer"s disease(FAD) were found. Also, the roles of APOE ε 4 as a risk allele and APOE ε 2 as a protective allele in late onset AD, were demonstrated. All of the mutations causing FAD were known to function through a common final pathway which involves the increase of fibrillogenic form of Aβ. The APOE allele seems to influence the production, distribution and clearance of Aβ. Such expansions in the understanding of AD molecular genetics give hopes to the development of novel therapeutic modalities. |