1 アルツハイマー病と遺伝子(第622回新潟医学会,認知症のすべて)

概要

論文の詳細を見る
Alzheimer's disease (AD) is thought to be a multifactorial disease probably caused by complicated interactions between genetic and environmental factors. A rare form of AD exhibits autosomal dominant inheritance of which the most cases can be caused by mutations in three known genes, amyloid precursor protein, pesenilin 1, and prsenilin 2. To date only the APOE-ε4 allele has been universally recognized as a major risk factor for late-onset AD and also as being associated with lowering of the age at onset. However, about 50 % of AD patients do not carry the APOE-ε4 allele. The identification of an additional genetic risk factor (s) would greatly facilitate our understanding of the neuropathological findings, the clinical manifestations and the varying responses to drugs. To search for susceptibility genes for late-onset AD by means of genome-wide screening, the Japanese Genetic Study Consortium for AD (JGSCAD) was organized in 2000, and blood samples were collected. We found that dynamin binding protein gene (DNMBP) on chromosome 10q was significantly associated with AD lacking the ε4 allele, and DNMBP might play a predominant role in the early stage of AD development.