FAP mutations destabilize transthyretin facilitating conformational changes required for amyloid formation

Ciba Found Symp. 1996:199:228-38; discussion 239-42. doi: 10.1002/9780470514924.ch14.

Abstract

Functional transthyretin (TTR) can be transformed into amyloid by partial acid denaturation yielding a monomeric amyloidogenic intermediate which self-associates. The amyloidogenic intermediate has substantial beta-sheet structure with non-native but defined tertiary structure. pH-dependent proteolysis sensitivity studies have identified portions of TTR which become disordered and solvent-exposed in the amyloidogenic intermediate. These include the C-strand-loop D-strand portion of TTR which moves away from the core of the beta-sandwich fold. Mutations that are associated with early onset-amyloid disease (familial amyloidotic polyneuropathy; FAP) function by destabilizing tetrameric TTR in favour of the monomeric amyloidogenic intermediate which has a rearranged C-strand-loop D-strand region. In most cases the FAP mutations do not significantly alter the native folded structure, but instead act on the denaturation pathway by a mechanism that is not completely understood. Interestingly, mutations have also been characterized which strongly stabilize tetrameric TTR and make amyloid formation very difficult at pHs accessible in vivo.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amyloid / biosynthesis*
  • Amyloidosis / etiology*
  • Amyloidosis / genetics
  • Amyloidosis / metabolism
  • Humans
  • Models, Molecular
  • Mutation
  • Prealbumin / genetics
  • Prealbumin / metabolism*
  • Protein Conformation
  • Protein Folding

Substances

  • Amyloid
  • Prealbumin