Dr. Rajender Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
Middle East Afr J Ophthalmol. 2024 Jun 14;30(2):113-120. doi: 10.4103/meajo.meajo_132_23. eCollection 2023 Apr-Jun.
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 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.
青光眼是全球范围内导致不可逆性失明的主要原因，可影响所有年龄段人群。它通常通过高眼内压、特征性视神经病变和视力丧失来确定。由于青光眼发病机制的多因素性质，目前对于导致其发生的分子事件了解甚少。最近，人们正在密切研究从母亲遗传的线粒体 DNA（mtDNA）变异，以阐明其对青光眼的影响。迄今为止，线粒体遗传学研究发现了 Leber 遗传性视神经病变基因座与青光眼之间可能存在联系，但观点存在冲突。此外，青光眼的全 mtDNA 研究表明氧化磷酸化复合物 I 特别是 NADH 脱氢酶基因参与了青光眼的发病机制。本综述重点介绍了鉴定可能参与青光眼发病机制的母系遗传 mtDNA 中的潜在基因和变异。
