D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile

Nat Commun. 2016 Jan 21:7:10353. doi: 10.1038/ncomms10353.

Abstract

Apolipoprotein C-III deficiency provides cardiovascular protection, but apolipoprotein C-III is not known to be associated with human amyloidosis. Here we report a form of amyloidosis characterized by renal insufficiency caused by a new apolipoprotein C-III variant, D25V. Despite their uremic state, the D25V-carriers exhibit low triglyceride (TG) and apolipoprotein C-III levels, and low very-low-density lipoprotein (VLDL)/high high-density lipoprotein (HDL) profile. Amyloid fibrils comprise the D25V-variant only, showing that wild-type apolipoprotein C-III does not contribute to amyloid deposition in vivo. The mutation profoundly impacts helical structure stability of D25V-variant, which is remarkably fibrillogenic under physiological conditions in vitro producing typical amyloid fibrils in its lipid-free form. D25V apolipoprotein C-III is a new human amyloidogenic protein and the first conferring cardioprotection even in the unfavourable context of renal failure, extending the evidence for an important cardiovascular protective role of apolipoprotein C-III deficiency. Thus, fibrate therapy, which reduces hepatic APOC3 transcription, may delay amyloid deposition in affected patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Amyloidosis / genetics*
  • Amyloidosis / metabolism*
  • Apolipoprotein C-III / chemistry
  • Apolipoprotein C-III / genetics
  • Apolipoprotein C-III / metabolism*
  • Base Sequence
  • Cardiovascular Diseases / prevention & control*
  • Female
  • France
  • Humans
  • Hyperlipoproteinemias / genetics
  • Hyperlipoproteinemias / metabolism
  • Lipoproteins, HDL / metabolism*
  • Lipoproteins, VLDL / metabolism*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation, Missense*
  • Pedigree

Substances

  • Apolipoprotein C-III
  • Lipoproteins, HDL
  • Lipoproteins, VLDL

Supplementary concepts

  • Apolipoprotein C-III Deficiency