[Proteins with frameshift mutations in Alzheimer's disease; cause or effect?].
In a recent paper in Science, a novel finding was presented on Alzheimer's disease. The authors describe mutant proteins, brought about by a change in the mRNA reading frame. These so-called +I proteins appear to be associated with neuropathological changes in Alzheimer's disease brains. Two proteins involved in the pathogenesis of the disease were studied: beta-amyloid precursor protein en ubiquitin-B. For both proteins, a deletion of two bases in a small percentage of the mRNAs caused the frame shift. Possible mechanisms and implications are discussed.
Scheper
W
W
Academisch Medisch Centrum, afd. Neurologie, Amsterdam.
Gool
W A
WA
D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D000818:Animals; D016368:Frameshift Mutation / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D012322:RNA Precursors / Q000648:ultrastructure; D012333:RNA, Messenger / Q000032:analysis; D014452:Ubiquitins / Q000235:genetics*
D016564:Amyloid beta-Protein Precursor; D012322:RNA Precursors; D012333:RNA, Messenger; D014452:Ubiquitins