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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • C9orf72 GGGGCC repeat expansion is the leading cause of familial frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS).
  • Despite intronic location and lack of ATG start codons, the repeat region is translated into dipeptide-repeat (DPR) proteins.

Purpose of the Study:

  • To validate the translation of DPR proteins from both sense and antisense strands of the C9orf72 repeat.
  • To investigate the full extent of DPR protein translation and co-aggregation.
  • To develop diagnostic tools for C9orf72-associated FTLD/ALS.

Main Methods:

  • Antibody-based validation of DPR protein translation.
  • Raising antibodies against predicted sense and antisense DPR products (poly-(Gly-Ala), poly-(Gly-Pro), poly-(Gly-Arg), poly-(Ala-Pro), poly-(Pro-Arg)).
  • Immunohistochemical staining of brain tissue from C9orf72 repeat expansion carriers.

Main Results:

  • Both sense and antisense C9orf72 repeat transcripts are translated into DPR proteins in the absence of ATG start codons.
  • These DPR proteins, including poly-(Gly-Arg), co-aggregate in neuronal cytoplasmic inclusions.
  • Inclusion pathology was observed throughout the cerebellum, hippocampus, and cortical regions, including motoneurons.

Conclusions:

  • The GGGGCC repeat is bidirectionally translated into five distinct DPR proteins that co-aggregate.
  • These findings confirm non-ATG translation of both repeat strands in C9orf72-associated FTLD/ALS.
  • Novel monoclonal antibodies against poly-(Gly-Arg) can aid in the pathological diagnosis of C9orf72 FTLD/ALS.