Cataract-linked γD-crystallin mutants have weak affinity to lens chaperones α-crystallins

FEBS Lett. 2012 Feb 17;586(4):330-6. doi: 10.1016/j.febslet.2012.01.019. Epub 2012 Jan 28.

Abstract

To test the hypothesis that α-crystallin chaperone activity plays a central role in maintenance of lens transparency, we investigated its interactions with γ-crystallin mutants that cause congenital cataract in mouse models. Although the two substitutions, I4F and V76D, stabilize a partially unfolded γD-crystallin intermediate, their affinities to α-crystallin are marginal even at relatively high concentrations. Detectable binding required further reduction of γD-crystallin stability which was achieved by combining the two mutations. Our results demonstrate that mutants and possibly age-damaged γ-crystallin can escape quality control by lens chaperones rationalizing the observation that they nucleate protein aggregation and lead to cataract.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Cataract / congenital
  • Cataract / genetics*
  • Cataract / metabolism*
  • Humans
  • Lens, Crystalline / chemistry
  • Lens, Crystalline / metabolism
  • Mice
  • Models, Molecular
  • Mutant Proteins / chemistry
  • Mutant Proteins / genetics*
  • Mutant Proteins / metabolism*
  • Protein Binding
  • Recombinant Proteins / chemistry
  • Recombinant Proteins / genetics
  • Recombinant Proteins / metabolism
  • Thermodynamics
  • Unfolded Protein Response
  • alpha-Crystallins / metabolism*
  • gamma-Crystallins / chemistry
  • gamma-Crystallins / genetics*
  • gamma-Crystallins / metabolism*

Substances

  • CRYGD protein, human
  • Mutant Proteins
  • Recombinant Proteins
  • alpha-Crystallins
  • gamma-Crystallins