Evaluation of mutant alleles of MYOC and CYP1B1 genes in patients with primary open-angle glaucoma

• Grant number: 09/15223-0
• Support Opportunities: Scholarships in Brazil - Master
• Start date: March 01, 2010
• End date: February 29, 2012
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Mônica Barbosa de Melo
• Grantee: Carolina Ayumi Braghini
• Host Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

Glaucoma comprises a heterogeneous group of optic neuropathies characterized by excavation of the optic disc and gradual loss of visual field, representing a major global cause of irreversible loss of vision. Molecular biology has enabled the discovery in 1997 of the gene MYOC gene, whose mutations are involved in the development of primary open-angle glaucoma (POAG) and juvenile-onset POAG (JOAG). In Brazil, 35.7% and 3.85% of patients with JOAG and POAG, respectively, are carriers of mutations in the MYOC gene. It was later discovered the CYP1B1 gene, first linked to primary congenital glaucoma. In studies in patients with POAG and changes in gene MYOC gene, mutations in the CYP1B1 gene were associated with modulation of the phenotype of the disease. The combination of mutations in both genes is possibly related to the early onset of POAG. Recently, we observed mutations in the CYP1B1 gene associated with POAG and JOAG, regardless of the presence of structural changes in the gene MYOC gene, results replicated in different populations. This project aims to assess mutations in CYP1B1 and MYOC gene using PCR and direct sequencing, in a cohort of approximately 130 individuals belonging to families with POAG or JOAG and 40 unrelated patients with JOAG. It will also be performed genotype/phenotype of individuals with mutations in these genes, in addition to evaluating the possible interaction between genes CYP1B1 and MYOC gene in determining disease phenotype. This study allows a better understanding of the role of these genes in the development of primary open-angle glaucoma in the Brazilian population.

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

SVIDNICKI, PAULO VINICIUS; BRAGHINI, CAROLINA AYUMI; COSTA, VITAL PAULINO; SCHIMITI, RUI BARROSO; CABRAL DE VASCONCELLOS, JOSE PAULO; DE MELO, MONICA BARBOSA. Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients. OPHTHALMIC GENETICS, v. 39, n. 6, p. 717-724, NOV 2 2018. (09/15223-0, 13/17958-2)

BRAGHINI, CAROLINA AYUMI; PENA NESHICH, IZABELLA AGOSTINHO; NESHICH, GORAN; SOARDI, FERNANDA CAROLINE; DE MELLO, MARICILDA PALANDI; COSTA, VITAL PAULINO; CABRAL DE VASCONCELLOS, JOSE PAULO; DE MELO, MONICA BARBOSA. New mutation in the myocilin gene segregates with juvenile-onset open-angle glaucoma in a Brazilian family. Gene, v. 523, n. 1, p. 50-57, JUL 1 2013. (09/15223-0)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

BRAGHINI, Carolina Ayumi. Evaluation of mutant alleles of MYOC and CYP1B1 genes in patients with primary open-angle glaucoma. 2012. Master's Dissertation - Universidade Estadual de Campinas (UNICAMP). Instituto de Biologia Campinas, SP.