Abstract:
Glaucoma, the leading cause of irreversible blindness worldwide, disproportionately affects individuals of African descent. Specifically, previous research has indicated that primary open-angle glaucoma (POAG), the most common form of disease, is more prevalent, severe, early-onset, and rapidly-progressive in populations of African ancestry. Recent studies have identified genetic variations that may contribute to the greater burden of disease in this population. In particular, mitochondrial genetics has emerged as a profoundly influential factor in multiple neurodegenerative diseases, including POAG. Several hypotheses explaining the underlying mechanisms of mitochondrial genetic contribution to disease progression have been proposed, including nuclear-mitochondrial gene mismatch. Exploring the fundamentals of mitochondrial genetics and disease pathways within the understudied African ancestry population can lead to groundbreaking advancements in the research and clinical understanding of POAG. This article discusses the currently known involvements of mitochondrial genetic factors in POAG, recent directions of study, and potential future prospects in mitochondrial genetic studies in individuals of African descent.
摘要:
青光眼,全球不可逆失明的主要原因,不成比例地影响非洲人后裔。具体来说,以前的研究表明,原发性开角型青光眼(POAG),最常见的疾病形式,更普遍,严重,早发,在非洲血统的人口中迅速进步。最近的研究已经确定了可能导致该人群更大的疾病负担的遗传变异。特别是,线粒体遗传学已成为多种神经退行性疾病的重要影响因素,包括POAG。已经提出了几个假说,解释了线粒体遗传对疾病进展的潜在机制。包括核-线粒体基因错配.在研究不足的非洲血统人群中探索线粒体遗传学和疾病途径的基本原理可以导致对POAG的研究和临床理解的突破性进展。本文讨论了目前已知的线粒体遗传因子在POAG中的参与,最近的研究方向,以及非洲裔个体线粒体遗传研究的潜在未来前景。