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      Extranuclear DNA Variations in the Susceptibility of Glaucoma

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          Abstract:

          Glaucoma is a leading cause of irreversible blindness worldwide which affects all age groups. It is often identified by high intraocular pressure, characteristic optic neuropathy, and vision loss. Due to multifactorial nature of glaucoma pathogenesis, the molecular events responsible for its precipitation are currently poorly understood. Mitochondrial DNA (mtDNA) variations which are inherited maternally are being closely studied in recent times to elucidate the effect on glaucoma. Mitochondrial genetic studies till date have found a possible link between Leber hereditary optic neuropathy loci and glaucoma but with conflicting views. Furthermore, whole mtDNA studies in glaucoma points at the involvement of oxidative phosphorylation complex I and specifically the NADH dehydrogenase 5 gene in glaucoma. This review focuses on identifying the potential genes and variations in the maternally inherited mtDNA which might be involved in glaucoma pathogenesis.

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          Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis.

          Yih-Chung Tham, Xiang Li, Tien Wong … (2014)
          Glaucoma is the leading cause of global irreversible blindness. Present estimates of global glaucoma prevalence are not up-to-date and focused mainly on European ancestry populations. We systematically examined the global prevalence of primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG), and projected the number of affected people in 2020 and 2040. Systematic review and meta-analysis. Data from 50 population-based studies (3770 POAG cases among 140,496 examined individuals and 786 PACG cases among 112 398 examined individuals). We searched PubMed, Medline, and Web of Science for population-based studies of glaucoma prevalence published up to March 25, 2013. Hierarchical Bayesian approach was used to estimate the pooled glaucoma prevalence of the population aged 40-80 years along with 95% credible intervals (CrIs). Projections of glaucoma were estimated based on the United Nations World Population Prospects. Bayesian meta-regression models were performed to assess the association between the prevalence of POAG and the relevant factors. Prevalence and projection numbers of glaucoma cases. The global prevalence of glaucoma for population aged 40-80 years is 3.54% (95% CrI, 2.09-5.82). The prevalence of POAG is highest in Africa (4.20%; 95% CrI, 2.08-7.35), and the prevalence of PACG is highest in Asia (1.09%; 95% CrI, 0.43-2.32). In 2013, the number of people (aged 40-80 years) with glaucoma worldwide was estimated to be 64.3 million, increasing to 76.0 million in 2020 and 111.8 million in 2040. In the Bayesian meta-regression model, men were more likely to have POAG than women (odds ratio [OR], 1.36; 95% CrI, 1.23-1.52), and after adjusting for age, gender, habitation type, response rate, and year of study, people of African ancestry were more likely to have POAG than people of European ancestry (OR, 2.80; 95% CrI, 1.83-4.06), and people living in urban areas were more likely to have POAG than those in rural areas (OR, 1.58; 95% CrI, 1.19-2.04). The number of people with glaucoma worldwide will increase to 111.8 million in 2040, disproportionally affecting people residing in Asia and Africa. These estimates are important in guiding the designs of glaucoma screening, treatment, and related public health strategies. Copyright © 2014 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.
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            Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

            D C Wallace, G. Singh, M Lott … (1988)
            Leber's hereditary optic neuropathy is a maternally inherited disease resulting in optic nerve degeneration and cardiac dysrhythmia. A mitochondrial DNA replacement mutation was identified that correlated with this disease in multiple families. This mutation converted a highly conserved arginine to a histidine at codon 340 in the NADH dehydrogenase subunit 4 gene and eliminated an Sfa NI site, thus providing a simple diagnostic test. This finding demonstrated that a nucleotide change in a mitochondrial DNA energy production gene can result in a neurological disease.
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              Leber hereditary optic neuropathy.

              Nicola W. Y. Man, D Turnbull, Patrick F. Chinnery (2002)
              Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that preferentially causes blindness in young adult males, affecting about 1 in 25 000 of the British population. It is characterised by bilateral subacute loss of central vision owing to focal degeneration of the retinal ganglion cell layer and optic nerve. Over 95% of LHON cases are primarily the result of one of three mitochondrial DNA (mtDNA) point mutations, G3460A, G11778A, and T14484C, which all involve genes encoding complex I subunits of the respiratory chain. An intriguing feature of LHON is that only approximately 50% of males and approximately 10% of females who harbour a pathogenic mtDNA mutation actually develop the optic neuropathy. This marked incomplete penetrance and gender bias imply that additional mitochondrial and/or nuclear genetic factors must be modulating the phenotypic expression of LHON. It is also likely that environmental factors contribute to the onset of visual failure. However, these secondary precipitating factors remain poorly defined at present. In this review, we describe the natural history of this optic nerve disorder and highlight issues relating to clinical diagnosis, management, and genetic counselling. We also discuss the findings of recently published studies and the light they shed on the complex aetiology and pathophysiology of LHON.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Middle East Afr J Ophthalmol
                Journal ID (iso-abbrev): Middle East Afr J Ophthalmol
                Journal ID (publisher-id): MEAJO
                Journal ID (publisher-id): Middle East Afr J Ophthalmol
                Title: Middle East African Journal of Ophthalmology
                Publisher: Wolters Kluwer - Medknow (India )
                ISSN (Print): 0974-9233
                ISSN (Electronic): 0975-1599
                Publication date Collection: Apr-Jun 2023
                Publication date (Electronic): 14 June 2024
                Volume: 30
                Issue: 2
                Pages: 113-120
                Affiliations
                [1] Dr. Rajender Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India
                Author notes
                Address for correspondence: Prof. Jasbir Kaur, Dr. Rajender Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India. E-mail: kaurjasbir@ 123456rediffmail.com
                Article
                Publisher ID: MEAJO-30-113
                DOI: 10.4103/meajo.meajo_132_23
                PMC ID: 11238935
                SO-VID: e120d568-8721-403a-a628-34780b5bc0f9
                Copyright © Copyright: © 2024 Middle East African Journal of Ophthalmology
                License:

                This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.

                History
                Date received : 29 August 2023
                Date revision received : 18 January 2024
                Date accepted : 28 February 2024
                Categories
                Subject: Review Article

                ScienceOpen disciplines: Ophthalmology & Optometry
                Keywords: glaucoma,leber hereditary optic neuropathy,maternal inheritance,mitochondrial dna,nadh dehydrogenase 5 gene,oxidative phosphorylation complex
                Data availability:
                ScienceOpen disciplines: Ophthalmology & Optometry
                Keywords: glaucoma, leber hereditary optic neuropathy, maternal inheritance, mitochondrial dna, nadh dehydrogenase 5 gene, oxidative phosphorylation complex

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