Abstract | PURPOSE: METHODS: One hundred-seventy-four Chinese subjects with POAG and 91 normal Chinese subjects were recruited. POAG was defined by the presence of glaucomatous optic neuropathy, open angles on gonioscopy, and absence of secondary causes of glaucoma. The single coding exon of NTF4 was PCR amplified and subjected to bidirectional sequencing in all subjects. RESULTS: The mean age of POAG patients was 66.0+/-13.0 years (range 25-96 years) and that of controls was 67.1+/-4.6 years (range 60-85 years). We identified a novel NTF4 missense mutation substituting leucine by serine at codon 113 (Leu113Ser) caused by a c.338T>C mutation in a single patient with unilateral POAG, who presented with a baseline intraocular pressure of 25 mmHg, a vertical cup-to-disc ratio of 0.9 and an inferior hemifield defect in the affected eye. Structural analysis indicated that the Leu113Ser mutation is likely to alter the NT-4 protein structure near the TrkB binding site and disrupts the formation of the NT-4-TrkB complex required for the activation of TrkB. CONCLUSIONS: Identification of a single mutation in our study suggests that NTF4 mutations are a rare cause of POAG (0.6%, 95%CI 0.02%-3.16%) in Chinese people.
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Authors | Eranga N Vithana, Monisha E Nongpiur, Divya Venkataraman, Stephanie H Chan, Jagadeesh Mavinahalli, Tin Aung |
Journal | Molecular vision
(Mol Vis)
Vol. 16
Pg. 1640-5
(Aug 15 2010)
ISSN: 1090-0535 [Electronic] United States |
PMID | 20806036
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Nerve Growth Factors
- neurotrophin 4
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Topics |
- Adult
- Aged
- Aged, 80 and over
- Amino Acid Sequence
- Asian People
(genetics)
- Base Sequence
- China
- Crystallography, X-Ray
- DNA Mutational Analysis
- Glaucoma, Open-Angle
(genetics)
- Humans
- Middle Aged
- Models, Molecular
- Molecular Sequence Data
- Mutation
(genetics)
- Nerve Growth Factors
(chemistry, genetics)
- Protein Structure, Secondary
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