Genetic Insights and Epidemiological Models in Understanding Primary Open Angle Glaucoma

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dc.contributor.authorUmezurike, BCen_US
dc.contributor.authorAkhimien, MOen_US
dc.contributor.authorChukwuka, Cen_US
dc.contributor.authorEjike, TCen_US
dc.contributor.authorUgwulor, Len_US
dc.contributor.authorAjoku, Ben_US
dc.contributor.authorIjioma, SN.en_US
dc.date.accessioned2024-12-02T11:58:32Z
dc.date.available2024-12-02T11:58:32Z
dc.date.issued2024-11
dc.description.abstractPrimary open-angle glaucoma (POAG) is a multifactorial chronic optic neuropathy with significant genetic heterogeneity. The pathogenesis of POAG involves an imbalance between the production and drainage of aqueous humor (AH). Genetic theories suggest that transgenic mice demonstrating the GLU50LYS mutation in optineurin (OPTN) experience retinal ganglion cell apoptosis, while mutant myocilin (MYOC) proteins induce endoplasmic reticulum (ER) stress, leading to an unfolded protein response (UPR) and subsequent apoptosis of trabecular meshwork cells (TMC). Furthermore, the interaction between MYOC and mitochondria in the trabecular meshwork (TM) and astrocytes may lead to mitochondrial membrane depolarization and calcium channel dysregulation, contributing to POAG. Overexpression of MYOC variants (P370L, Q368X) is also implicated, as are epigenetic modifications and signaling pathways such as histone and DNA modification. POAG has been associated with autosomal dominant inheritance, with mutations in MYOC and OPTN being prominent causative factors, although many cases involve multiple genetic loci. Currently, over 20 genetic loci have been linked to POAG, with 14 chromosomal loci (GLC1A to GLC1N) identified, 5 of which contribute to juvenile-onset open-angle glaucoma (JOAG). Of these loci, MYOC, OPTN, WD repeat domain 36 (WDR36), and neurotrophin-4 (NTF4) are the most studied causative genes. The ongoing study of molecular genetics offers potential pathways for future therapeutic advances in the treatment of POAG.en_US
dc.identifier.affiliationsDepartment of Optometry, Faculty of Allied Health Science, Gregory University, Uturu. Abia State Nigeriaen_US
dc.identifier.affiliationsState Team Lead, African Field Epidemiology Network, AFENET/NSTOP, Gusau Field Office, Commissioners quarter, Gusau, Zamfara State, Nigeriaen_US
dc.identifier.affiliationsDepartment of Optometry, Faculty of Allied Health Science, Gregory University, Uturu. Abia State Nigeriaen_US
dc.identifier.affiliationsDepartment of Optometry, Faculty of Allied Health Science, Gregory University, Uturu. Abia State Nigeriaen_US
dc.identifier.affiliationsDepartment of Public Health, Faculty of Allied Health Science, Gregory University, Uturu. Abia State Nigeriaen_US
dc.identifier.affiliationsDepartment of Public Health, Faculty of Allied Health Science, Gregory University, Uturu. Abia State Nigeriaen_US
dc.identifier.affiliationsDepartment of Human Physiology, Micheal Okpara University of Agriculture, Umudike, Umuahia, Nigeria.en_US
dc.identifier.citationUmezurike BC, Akhimien MO, Chukwuka C, Ejike TC, Ugwulor L, Ajoku B, Ijioma SN.. Genetic Insights and Epidemiological Models in Understanding Primary Open Angle Glaucoma. Ophthalmology Research: An International Journal. 2024 Nov; 19(6): 1-21en_US
dc.identifier.issn2321–7227
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/240610
dc.languageenen_US
dc.publisherMs. M. B. Mondalen_US
dc.relation.issuenumber6en_US
dc.relation.volume19en_US
dc.source.urihttps://doi.org/10.9734/or/2024/v19i6440en_US
dc.subjectPrimary open-angle glaucomaen_US
dc.subjectmutationen_US
dc.subjectgene locusen_US
dc.subjectgenetic mappingen_US
dc.subjectmendelian inheritanceen_US
dc.subjectgene penetranceen_US
dc.titleGenetic Insights and Epidemiological Models in Understanding Primary Open Angle Glaucomaen_US
dc.typeJournal Articleen_US
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