Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin

N Engl J Med. 2012 Jun 14;366(24):2276-83. doi: 10.1056/NEJMoa1201356.

Abstract

We describe a kindred with slowly progressive gastrointestinal symptoms and autonomic neuropathy caused by autosomal dominant, hereditary systemic amyloidosis. The amyloid consists of Asp76Asn variant β(2)-microglobulin. Unlike patients with dialysis-related amyloidosis caused by sustained high plasma concentrations of wild-type β(2)-microglobulin, the affected members of this kindred had normal renal function and normal circulating β(2)-microglobulin values. The Asp76Asn β(2)-microglobulin variant was thermodynamically unstable and remarkably fibrillogenic in vitro under physiological conditions. Previous studies of β(2)-microglobulin aggregation have not shown such amyloidogenicity for single-residue substitutions. Comprehensive biophysical characterization of the β(2)-microglobulin variant, including its 1.40-Å, three-dimensional structure, should allow further elucidation of fibrillogenesis and protein misfolding.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloidosis, Familial / complications
  • Amyloidosis, Familial / genetics*
  • Diarrhea / etiology
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Protein Structure, Quaternary
  • Proteome / genetics
  • Sjogren's Syndrome / complications
  • Sjogren's Syndrome / genetics
  • beta 2-Microglobulin / chemistry
  • beta 2-Microglobulin / genetics*

Substances

  • Proteome
  • beta 2-Microglobulin