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Updated: May 20, 2026
13:47
Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis
Published on: June 3, 2018
Evaluation of NTF4 as a causative gene for primary open-angle glaucoma
Li Jia Chen1, Tsz Kin Ng, Alex H Fan
1Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong, China.
Molecular Vision
|July 21, 2012
Summary
Neurotrophin-4 (NTF4) gene variants were investigated in Chinese primary open-angle glaucoma (POAG) patients. Functional mutations were identified, but NTF4
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness.
- The neurotrophin-4 (NTF4) gene has been suggested to play a role in POAG pathogenesis.
Purpose of the Study:
- To investigate the implication of NTF4 gene variants in POAG among three Chinese cohorts.
- To analyze the functional impact of identified NTF4 variants.
Main Methods:
- Sequencing of NTF4 coding regions and exon-intron boundaries in 950 Chinese subjects.
- Functional assays including site-directed mutagenesis, cell transfection, and analysis of protein solubility and cell migration.
Main Results:
- Three NTF4 variants were identified, including two novel missense variants (p.Gly157Ala and p.Ala182Val).
- These novel variants were found in POAG patients but not in controls.
- Functional assays demonstrated that the identified variants are functional mutations, affecting protein solubility and cell migration.
Conclusions:
- NTF4 variants p.Gly157Ala and p.Ala182Val are functional mutations associated with POAG.
- While NTF4 is functionally related to POAG, its mutation frequency is low.
- NTF4 does not appear to be a major contributor to the molecular genetics of POAG.
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