APP717 missense mutation affects the ratio of amyloid beta protein species (A beta 1-42/43 and a beta 1-40) in familial Alzheimer's disease brain.
作者： A Tamaoka , A Odaka , Y Ishibashi , M Usami , N Sahara
DOI: 10.1016/S0021-9258(20)30050-8
关键词:
摘要: We have biochemically purified A beta from brains of two unrelated familial Alzheimer's disease (FAD) pedigrees with the APP717 mutation (Val-->Ile) and sporadic (AD) characterized them by means mass spectrometry enzyme-linked immunosorbent assay. observed types amyloid protein (A beta), short-tail form 1-40) long-tail 1-42/43), in AD FAD brains, found that ratio 1-42/43) to total was increased brains. These vivo results were confirmed vitro using cultured cells transfected three kinds APP cDNAs bearing mutations (Val-->Ile, Gly, or Phe). Taken together hypothesis 1-42/43 functions as a "seed" increases kinetics fibril formation (Jarrett, J. T., Lansbury, P. Jr. (1993) Cell 73, 1055-1058), we conclude missense does not create new species but promotes accumulation brain, which enhancement soluble beta. findings provide causal relationship between this genotype pathological phenotype deposition senile plaque formation.
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