title: Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  Amyloid and Pro501Thr-mutated (beta)ig-h3 protein accumulate and colocalize in LCD-IIIA.
authors.affiliation: Department of Ophthalmology, Kyoto Prefectural University of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Kawasaki
authors.forename: K
authors.initials: K
authors.lastname: Nishida
authors.forename: A J
authors.initials: AJ
authors.lastname: Quantock
authors.forename: A
authors.initials: A
authors.lastname: Dota
authors.forename: K
authors.initials: K
authors.lastname: Bennett
authors.forename: S
authors.initials: S
authors.lastname: Kinoshita
mesh_terms: D000368:Aged; D000682:Amyloid / Q000378:metabolism*; D003224:Congo Red; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D004247:DNA / Q000032:analysis; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins; D006801:Humans; D007124:Immunoenzyme Techniques; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011392:Proline / Q000235:genetics; D013912:Threonine / Q000235:genetics; D016212:Transforming Growth Factor beta / Q000235:genetics* / Q000378:metabolism*; D000099222:betaIG-H3 Protein
chemical_list: D000682:Amyloid; D003224:Congo Red; D004247:DNA; D016326:Extracellular Matrix Proteins; D009363:Neoplasm Proteins; D011392:Proline; D013912:Threonine; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein