教育演講10:阿茲海默失智症診斷治療的最新發展
Recent Advance of the Diagnosis and Management of Alzheimer’s Disease

程 序 表

E10-2
阿茲海默失智症致病基因研究的最新發展
The genetics of Alzheimer’s disease
李銘仁
臺大醫院神經部

  Alzheimer’s disease (AD) is the most common neurodegenerative disease and one of the most common diseases in the developed countries. Genetic research in AD have substantially changed and broadened our understanding of the pathogenetic mechanisms leading to neurodegeneration and dementia. Using positional cloning technology, a few rare and disease-causing mutations in APP, PSEN1, and PSEN2 was identified to be responsible for early-onset AD. In further study, the epsilon allele (E4) of APOE gene was also been found to be the single most important risk factor for late onset AD. In the recent study, genome-wide association approaches have delivered several additional AD susceptibility loci that are common in the general population, but exert only very small risk effects. Therefore, a large proportion of the heritability of AD remains unexplained by the currently known disease genes. It is proposed that much of these responsible heritability loci may be rare sequence variants. Owing to recent advances in high-throughput sequencing technologies, the identification of the needle in haystack might be facilitated in an unprecedented speed.