Familial Alzheimer disease associated with A713T mutation in APP

Neurosci Lett. 2004 Nov 11;370(2-3):241-3. doi: 10.1016/j.neulet.2004.08.026.


Mutations in APP are associated with familial early-onset Alzheimer disease (FAD). Examination of the genomic sequence in one patient with FAD revealed a change located in the axon 17 of the APP gene at position 275329G>A (GenBank accession number: D87675; GI: 2429080); cDNA sequence 2137G>A (GenBank accession number: X06989; GI: 28720). This corresponds to the mutation A713T in APP. AD stage VI of neurofibrillary degeneration and stage C of Abeta-amyloid burden was found at the post-mortem neuropathological examination. Previous studies have suggested that the mutation A713T in APP is a silent mutation or polymorphism. However, we have not found this change in APP in a control population analyzed by the amplification-refractory mutation system (ARMS). It is concluded that A713T in APP is implicated in the pathogenesis of AD. Since the immunohistochemical study indicates that A713T mutation is not likely to relate with Abeta-amyloid processing, the causative role of this rare mutation remains to be warranted.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alanine / genetics*
  • Alzheimer Disease / genetics*
  • Cerebral Cortex / pathology
  • DNA Mutational Analysis / methods
  • Exons
  • Humans
  • Immunohistochemistry / methods
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Point Mutation / genetics*
  • Serum Amyloid A Protein / genetics*
  • Serum Amyloid A Protein / metabolism
  • Threonine / genetics*


  • Serum Amyloid A Protein
  • Threonine
  • Alanine

Associated data

  • GENBANK/D87675
  • GENBANK/X06989