Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA

Am J Ophthalmol. 1999 Apr;127(4):456-8. doi: 10.1016/s0002-9394(98)00360-2.

Abstract

Purpose: To assess the relative distribution in the cornea of amyloid and (beta)ig-h3 gene product in lattice corneal dystrophy type IIIA (LCD-IIIA).

Methods: Serial sections from the cornea of a patient with LCD-IIIA were subjected to either Congo red staining or immunohistochemistry employing an antibody to (beta)ig-h3. Also, genomic DNA was isolated from peripheral blood and used as a template for polymerase chain reaction to amplify all exons of (beta)ig-h3.

Results: Exon 11 of (beta)ig-h3 was mutated (Pro501Thr). Subepithelial and intrastromal congophilic deposits exhibited a birefringency characteristic of amyloid. These regions of the tissue were also highly immunoreactive with the antibody to the (beta)ig-h3 gene product.

Conclusion: Amyloid and Pro501Thr-mutated (beta)ig-h3 protein accumulate and colocalize in LCD-IIIA.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Amyloid / metabolism*
  • Congo Red
  • Corneal Dystrophies, Hereditary / genetics
  • Corneal Dystrophies, Hereditary / metabolism*
  • Corneal Dystrophies, Hereditary / pathology
  • DNA / analysis
  • Exons / genetics
  • Extracellular Matrix Proteins*
  • Humans
  • Immunoenzyme Techniques
  • Male
  • Neoplasm Proteins / genetics*
  • Neoplasm Proteins / metabolism*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Proline / genetics
  • Threonine / genetics
  • Transforming Growth Factor beta / genetics*
  • Transforming Growth Factor beta / metabolism*

Substances

  • Amyloid
  • Extracellular Matrix Proteins
  • Neoplasm Proteins
  • Transforming Growth Factor beta
  • betaIG-H3 protein
  • Threonine
  • Congo Red
  • DNA
  • Proline