Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities

Glaucoma is the leading cause of irreversible blindness worldwide, with elevated intraocular pressure (IOP) as the only known modifiable risk factor. Trabecular meshwork (TM)-inducible myocilin (the <i>MYOC</i> gene) was the first to be identified and linked to juvenile and primary open-...

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Autores principales:	Tarin Tanji, Emily Cohen, Darrick Shen, Chi Zhang, Fei Yu, Anne L. Coleman, Jie J. Zheng
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	trabecular meshwork myocilin intraocular pressure endoplasmic reticulum stress Genetics QH426-470
Acceso en línea:	https://doaj.org/article/f9c23b7aba584649b7d656841d16ca02
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spelling	oai:doaj.org-article:f9c23b7aba584649b7d656841d16ca022021-11-25T17:42:11ZAge at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities10.3390/genes121118022073-4425https://doaj.org/article/f9c23b7aba584649b7d656841d16ca022021-11-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1802https://doaj.org/toc/2073-4425Glaucoma is the leading cause of irreversible blindness worldwide, with elevated intraocular pressure (IOP) as the only known modifiable risk factor. Trabecular meshwork (TM)-inducible myocilin (the <i>MYOC</i> gene) was the first to be identified and linked to juvenile and primary open-angle glaucoma. It has been suggested that mutations in the <i>MYOC</i> gene and the aggregation of mutant myocilin in the endoplasmic reticulum (ER) of TM may cause ER stress, resulting in a reduced outflow of aqueous humor and an increase in IOP. We selected 20 <i>MYOC</i> mutations with experimentally determined melting temperatures of mutated myocilin proteins. We included 40 published studies with at least one glaucoma patient with one of these 20 <i>MYOC</i> mutations and information on age at glaucoma diagnosis. Based on data from 458 patients, we found that a statistically significant but weak correlation was present between age and melting temperature based on various assumptions for age. We therefore conclude that genetic analysis of <i>MYOC</i> mutations alone cannot be used to accurately predict age at glaucoma diagnosis. However, it might be an important prognostic factor combined with other clinical factors for critical and early detection of glaucoma.Tarin TanjiEmily CohenDarrick ShenChi ZhangFei YuAnne L. ColemanJie J. ZhengMDPI AGarticletrabecular meshworkmyocilinintraocular pressureendoplasmic reticulum stressGeneticsQH426-470ENGenes, Vol 12, Iss 1802, p 1802 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	trabecular meshwork myocilin intraocular pressure endoplasmic reticulum stress Genetics QH426-470
spellingShingle	trabecular meshwork myocilin intraocular pressure endoplasmic reticulum stress Genetics QH426-470 Tarin Tanji Emily Cohen Darrick Shen Chi Zhang Fei Yu Anne L. Coleman Jie J. Zheng Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities
description	Glaucoma is the leading cause of irreversible blindness worldwide, with elevated intraocular pressure (IOP) as the only known modifiable risk factor. Trabecular meshwork (TM)-inducible myocilin (the <i>MYOC</i> gene) was the first to be identified and linked to juvenile and primary open-angle glaucoma. It has been suggested that mutations in the <i>MYOC</i> gene and the aggregation of mutant myocilin in the endoplasmic reticulum (ER) of TM may cause ER stress, resulting in a reduced outflow of aqueous humor and an increase in IOP. We selected 20 <i>MYOC</i> mutations with experimentally determined melting temperatures of mutated myocilin proteins. We included 40 published studies with at least one glaucoma patient with one of these 20 <i>MYOC</i> mutations and information on age at glaucoma diagnosis. Based on data from 458 patients, we found that a statistically significant but weak correlation was present between age and melting temperature based on various assumptions for age. We therefore conclude that genetic analysis of <i>MYOC</i> mutations alone cannot be used to accurately predict age at glaucoma diagnosis. However, it might be an important prognostic factor combined with other clinical factors for critical and early detection of glaucoma.
format	article
author	Tarin Tanji Emily Cohen Darrick Shen Chi Zhang Fei Yu Anne L. Coleman Jie J. Zheng
author_facet	Tarin Tanji Emily Cohen Darrick Shen Chi Zhang Fei Yu Anne L. Coleman Jie J. Zheng
author_sort	Tarin Tanji
title	Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities
title_short	Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities
title_full	Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities
title_fullStr	Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities
title_full_unstemmed	Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities
title_sort	age at glaucoma diagnosis in germline myocilin mutation patients: associations with polymorphisms in protein stabilities
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/f9c23b7aba584649b7d656841d16ca02
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Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities

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