Investigation of variants in the MYOC gene in Brazilian patients with advanced primary open-angle glaucoma.

• Grant number: 25/02608-3
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: May 01, 2025
• End date: April 30, 2026
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Mônica Barbosa de Melo
• Grantee: Isabella Aguiar Norimbene
• Host Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

Glaucoma encompasses a group of optic neuropathies characterized by increased cupping of the optic disc, reduction of the retinal ganglion cell layer, and progressive loss of the visual field. Considered the leading cause of irreversible blindness worldwide, numerous research studies are being conducted to better understand the genetic factors associated with the disease. Among these, the MYOC gene, encoding the myocilin protein and identified in 1997, is considered the main gene associated with primary open-angle glaucoma (POAG). Alterations identified in the MYOC gene are linked to the development of both adult and juvenile forms (JOAG) of the disease. In Brazil, it is estimated that 35.7% of patients with JOAG and 3.85% of individuals with POAG carry variants in the MYOC gene. However, despite its relevance in the pathophysiology of glaucoma, few studies have been conducted to investigate this gene in the Brazilian population. Thus, the present project aims to evaluate alterations in the MYOC gene in patients with advanced POAG, which is a different approach from previous studies by our group, which focused on families and unrelated patients diagnosed with JOAG. To achieve this, genetic investigation using PCR techniques and direct sequencing will be performed on 50 individuals diagnosed with advanced POAG. The goal of this research is to expand knowledge about the role of the MYOC gene in the etiology of POAG and the importance of investigating this gene in this specific patient population.