{"title":"Extranuclear DNA Variations in the Susceptibility of Glaucoma.","authors":"Sunil Kumar, Ranjeet Kaur, Manzoor A Malik, Dewang Angmo, Jasbir Kaur","doi":"10.4103/meajo.meajo_132_23","DOIUrl":null,"url":null,"abstract":"<p><p>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 <i>5</i> 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.</p>","PeriodicalId":18740,"journal":{"name":"Middle East African Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11238935/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Middle East African Journal of Ophthalmology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/meajo.meajo_132_23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/4/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍：
The Middle East African Journal of Ophthalmology (MEAJO), published four times per year in print and online, is an official journal of the Middle East African Council of Ophthalmology (MEACO). It is an international, peer-reviewed journal whose mission includes publication of original research of interest to ophthalmologists in the Middle East and Africa, and to provide readers with high quality educational review articles from world-renown experts. MEAJO, previously known as Middle East Journal of Ophthalmology (MEJO) was founded by Dr Akef El Maghraby in 1993.
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