Jun Shoji — Page 2 | PubMed Health

PubMedDate not supplied

A novel nonsense mutation with a compound heterozygous mutation in TGFBI gene in lattice corneal dystrophy type I.

PURPOSE: We examined transforming growth factor beta-induced (TGFBI) gene mutations in a family with lattice corneal dystrophy type I. METHODS: The proband was one of the offspring of a consanguineous marriage; 4 affected and 3 unaffected individuals of the family were investigated. Genomic DNA of each case was extracted and used for polymerase chain reaction (PCR). The exon 4, 11, and 12 of the TGFBI gene were directly sequenced. The mutations were confirmed by PCR restriction fragment length polymorphism analysis. RESULTS: There was no significant difference in phenotype between the proband and the other 2 patients, except for progression of the corneal opacity with age. R124C mutation was detected in all affected individuals. In addition, G470X, a novel nonsense mutation, was detected in the proband, resulting in the proband being a compound heterozygote with the TGFBI gene. Her unaffected daughter was found to be heterozygous for G470X. CONCLUSION: It is most likely that the novel nonsense mutation is not pathogenic, and that the mutant keratoepithelin protein with R124C is responsible for the phenotype.

Adolescent↗

PubMedDate not supplied

Active form of gelatinases in tear fluidin patients with corneal ulcer or ocular burn.

PURPOSE: To investigate the expression of the active form of gelatinases (gelatinase A: matrix metalloproteinase-2 [MMP-2] and gelatinase B: matrix metalloproteinase-9 [MMP-9]) in ocular surface disorders, we determined the presence of the active form of these gelatinases in the tear fluid of patients with corneal ulcer or ocular burn. METHODS: The subjects consisted of the ulcer group comprising 13 eyes, the burn group comprising 6 eyes, and the normal group comprising 10 eyes. Tear samples were taken by the method of the Schirmer test I. The tears were eluted using extraction buffer containing 0.01 M phosphate buffer solution (pH 7.2), 1% Tween 20 and 1 M NaCl, and analyzed by gelatin zymography. RESULTS: Only the proforms of MMP-2, and MMP-9 were detected in the normal group and in uncomplicated herpetic keratitis or herpetic keratitis cases complicated by mixed infection in the ulcer group. Active MMP-9 was detected in mild corneal ulcer cases and mild ocular burn cases. Both active MMP-2 and active MMP-9 were detected in endogenous corneal ulcer cases and severe burn cases, including perforation cases. CONCLUSIONS: Both active gelatinases were detected in tears of severe corneal ulcer or severe ocular burn cases. The active form of gelatinase expression may be related to the severity of ulceration.

Abscess↗