Molecular misreading: the frequency of dinucleotide deletions in neuronal mRNAs for beta-amyloid precursor protein and ubiquitin B

Neurobiol Aging. 2005 Feb;26(2):145-55. doi: 10.1016/j.neurobiolaging.2004.03.011.

Abstract

Human neuronal cells contain mutant beta-amyloid precursor protein (APP) and ubiquitin B (UBB) mRNAs, in which dinucleotide deletions ('Delta') are generated in/around GAGAG-motifs by an unknown mechanism referred to as 'Molecular Misreading.' The encoded frameshifted (+1) proteins accumulate in the neuropathological hallmarks of Alzheimer's disease (AD) and in other neurodegenerative and age-related diseases. To measure the concentration of Delta mRNAs, we developed a highly sensitive and specific assay, utilizing peptide nucleic acid-mediated PCR clamping, followed by cloning and colony hybridization with sequence-specific oligonucleotide probes. We found only a few molecules of Delta mRNA/microg of cellular RNA, at levels <10(-5) to 10(-6) x the concentration of WT mRNA, in RNA extracted from: (i) cultured human neuroblastoma cells grown under a variety of conditions, (ii) the frontal half of brains from wild type and XPA(-/-) DNA repair-deficient mice, and (iii) post-mortem temporal cortices from humans. Importantly, in RNA from the temporal cortices of AD and Down Syndrome patients that contain betaAPP+1 and UBB+1 immunoreactive cells, we found the same low levels of Delta mRNA. We infer that the accumulation of +1 proteins in neurons of these patients is not caused by an increase in the concentration of Delta mRNAs.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / genetics
  • Alzheimer Disease / metabolism
  • Amyloid beta-Protein Precursor / genetics
  • Amyloid beta-Protein Precursor / metabolism*
  • Animals
  • Brain / cytology
  • Brain / metabolism
  • Cell Line
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism
  • Dinucleoside Phosphates / metabolism
  • Down Syndrome / genetics
  • Down Syndrome / metabolism
  • Electrophoresis / methods
  • Female
  • Gene Deletion*
  • Humans
  • Male
  • Mice
  • Middle Aged
  • Molecular Biology / methods
  • Neurons / metabolism*
  • Nucleic Acid Hybridization / methods
  • Postmortem Changes
  • RNA, Messenger / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Ubiquitin / genetics
  • Ubiquitin / metabolism*
  • Xeroderma Pigmentosum Group A Protein

Substances

  • Amyloid beta-Protein Precursor
  • DNA-Binding Proteins
  • Dinucleoside Phosphates
  • RNA, Messenger
  • UBB protein, human
  • Ubiquitin
  • XPA protein, human
  • Xeroderma Pigmentosum Group A Protein
  • Xpa protein, mouse