Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA.
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.
Kawasaki
S
S
Department of Ophthalmology, Kyoto Prefectural University of Medicine, Japan.
Nishida
K
K
Quantock
A J
AJ
Dota
A
A
Bennett
K
K
Kinoshita
S
S
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
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