Cryo-EM observation of the amyloid key structure of polymorphic TDP-43 amyloid fibrils

Nat Commun. 2024 Jan 12;15(1):486. doi: 10.1038/s41467-023-44489-0.

Abstract

The transactive response DNA-binding protein-43 (TDP-43) is a multi-facet protein involved in phase separation, RNA-binding, and alternative splicing. In the context of neurodegenerative diseases, abnormal aggregation of TDP-43 has been linked to amyotrophic lateral sclerosis and frontotemporal lobar degeneration through the aggregation of its C-terminal domain. Here, we report a cryo-electron microscopy (cryo-EM)-based structural characterization of TDP-43 fibrils obtained from the full-length protein. We find that the fibrils are polymorphic and contain three different amyloid structures. The structures differ in the number and relative orientation of the protofilaments, although they share a similar fold containing an amyloid key motif. The observed fibril structures differ from previously described conformations of TDP-43 fibrils and help to better understand the structural landscape of the amyloid fibril structures derived from this protein.

MeSH terms

  • Amyloid / metabolism
  • Amyloidogenic Proteins
  • Amyotrophic Lateral Sclerosis* / genetics
  • Amyotrophic Lateral Sclerosis* / metabolism
  • Cryoelectron Microscopy
  • DNA-Binding Proteins / metabolism
  • Frontotemporal Lobar Degeneration* / metabolism
  • Humans

Substances

  • Amyloid
  • Amyloidogenic Proteins
  • DNA-Binding Proteins