Rodent genetically modified models of glaucoma.

Animal models Genetically modified mice Normal tension glaucoma Pigmentary glaucoma Primary angle closure glaucoma Primary open angle glaucoma

Journal

Molecular aspects of medicine
ISSN: 1872-9452
Titre abrégé: Mol Aspects Med
Pays: England
ID NLM: 7603128

Informations de publication

Date de publication:
30 Nov 2023
Historique:
received: 11 07 2023
revised: 11 11 2023
accepted: 15 11 2023
medline: 2 12 2023
pubmed: 2 12 2023
entrez: 1 12 2023
Statut: aheadofprint

Résumé

Glaucoma, one of the leading causes of irreversible blindness worldwide, is a complex and heterogenous disease. While environmental factors are important, it is well-recognized that the disease has a strong heritable component. With the advent of large-cohort genome wide association studies, a myriad of genetic risk loci has been linked to different forms of glaucoma. Animal models have been an indispensable tool in characterizing these loci, especially if they lie within coding regions in the genome. Not only do these models connect genotype to phenotype, advancing our understanding of glaucoma pathogenesis in the process, they also have valuable utility as a platform for the pre-clinical testing of potential therapies. In this review, we will outline genetic models used for studying the major forms of glaucoma, including primary open angle glaucoma, normal tension glaucoma, primary angle closure glaucoma, pigmentary glaucoma, pseudoexfoliation glaucoma, and early onset glaucoma, including congenital and developmental glaucoma, and how studying these models have helped shed light on human glaucoma.

Identifiants

pubmed: 38039744
pii: S0098-2997(23)00069-9
doi: 10.1016/j.mam.2023.101229
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

101229

Informations de copyright

Copyright © 2023 Elsevier Ltd. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this article.

Auteurs

Yunhua Loo (Y)

Duke-NUS Medical School, Singapore; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.

Anita Sook Yee Chan (ASY)

Duke-NUS Medical School, Singapore; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.

Chiea Chuen Khor (CC)

Duke-NUS Medical School, Singapore; Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.

Tin Aung (T)

Duke-NUS Medical School, Singapore; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.

Zhenxun Wang (Z)

Duke-NUS Medical School, Singapore; Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore. Electronic address: zhenxun.wang@duke-nus.edu.sg.

Classifications MeSH