Can I read Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change on EtoBox?

Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change by Moulinath Acharya; Suddhasil Mookherjee; Ashima Bhattacharjee; Sanjay KD Thakur; Arun K Bandyopadhyay; Abhijit Sen; Subhabrata Chakrabarti; Kunal Ray is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change about?

## Background We investigated the molecular basis of primary open-angle glaucoma (POAG) using Opticin (__OPTC__) as a candidate gene on the basis of its expression in the trabecular meshwork cells involved in the disease pathogenesis. Two hundred POAG patients and 100 controls were enrolled in this study. The coding sequence of __OPTC__ was amplified by PCR from genomic DNA of POAG patients, followed by SSCP, DHPLC and DNA sequencing. Subsequent bioinformatic analysis, site-directed mutagenesis, quantitative RT-PCR and western blot experiments were performed to address the functional significance of a 'silent' change in the __OPTC__ coding region while screening for mutations in POAG patients. ## Results We detected two missense (p.Glu66Gly & p.Ile89Thr) and one silent change (p.Phe162Phe; c.602 C>T) that was present in 3 different patients but in none of the 100 controls screened. The mutant (c.602T) mRNA was predicted to have remarkably different secondary structure compared to the wild-type transcript by __in silico__ approaches. Subsequent wet-lab experiments showed lower expression of the gene both at the mRNA and protein levels. ## Conclusion Our study suggests __OPTC__ as a

Who reads Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change?

Author

Moulinath Acharya; Suddhasil Mookherjee; Ashima Bhattacharjee; Sanjay KD Thakur; Arun K Bandyopadhyay; Abhijit Sen; Subhabrata Chakrabarti; Kunal Ray

Publisher

BioMed Central; Springer (Biomed Central Ltd.); London: BioMed Central, [2000]-; Springer Science and Business Media LLC (ISSN 1471-2199)

Published

2007

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)