Mendelian genes in primary open angle glaucoma

Nathan C Sears; Erin A Boese; Mathew A Miller; John H Fingert

doi:10.1016/j.exer.2019.107702

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Mendelian genes in primary open angle glaucoma

Journal article

Peer reviewed

Mendelian genes in primary open angle glaucoma

Nathan C Sears, Erin A Boese, Mathew A Miller and John H Fingert

Experimental eye research, Vol.186, pp.107702-107702

09/2019

DOI: 10.1016/j.exer.2019.107702

PMID: 31238079

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https://pmc.ncbi.nlm.nih.gov/articles/PMC10207284/pdf/nihms-1893602.pdfView

Open Access

Abstract

Mutations in each of three genes, myocilin (MYOC), optineurin (OPTN), and TANK binding kinase 1 (TBK1), may cause primary open-angle glaucoma (POAG) that is inherited as a Mendelian trait. MYOC mutations cause 3-4% of POAG cases with IOP >21 mmHg, while mutations in OPTN, TBK1, and MYOC each cause ∼1% of POAG with IOP ≤21 mmHg, i.e. normal tension glaucoma. Identification of these disease-causing genes has provided insights into glaucoma pathogenesis. Mutations in MYOC cause a cascade of abnormalities in the trabecular meshwork including intracellular retention of MYOC protein, decreased aqueous outflow, higher intraocular pressure, and glaucoma. Investigation of MYOC mutations demonstrated that abnormal retention of intracellular MYOC and stimulation of endoplasmic reticular (ER) stress may be important steps in the development of MYOC-associated glaucoma. Mutations in OPTN and TBK1 cause a dysregulation of autophagy which may directly cause retinal ganglion cell damage and normal tension glaucoma. Discovery of these Mendelian causes of glaucoma has also provided a new set of potential therapeutic targets that may ultimately lead to novel, gene-directed glaucoma treatments.

Mutation

Glycoproteins - genetics

Cytoskeletal Proteins - genetics

Glaucoma, Open-Angle - genetics

Membrane Transport Proteins - genetics

Humans

Mendelian Randomization Analysis

Protein-Serine-Threonine Kinases - genetics

Cell Cycle Proteins - genetics

Eye Proteins - genetics

Details

Title: Subtitle: Mendelian genes in primary open angle glaucoma
Creators: Nathan C Sears - University of Iowa, Ophthalmology and Visual Sciences
Erin A Boese - University of Iowa, Ophthalmology and Visual Sciences
Mathew A Miller - Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA
John H Fingert - University of Iowa, Ophthalmology and Visual Sciences
Resource Type: Journal article
Publication Details: Experimental eye research, Vol.186, pp.107702-107702
DOI: 10.1016/j.exer.2019.107702
PMID: 31238079
NLM abbreviation: Exp Eye Res
ISSN: 0014-4835
eISSN: 1096-0007
Grant note: DOI: 10.13039/100001818, name: Research to Prevent Blindness
Language: English
Date published: 09/2019
Academic Unit: Ophthalmology and Visual Sciences
Record Identifier: 9984107736102771

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