在追赶的同时铺平道路:非洲祖先原发性开角型青光眼的线粒体遗传学

Grace Kuang, Rebecca Salowe, Joan O’Brien
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引用次数: 0

摘要

青光眼是世界范围内导致不可逆失明的主要原因,对非洲人后裔的影响尤为严重。具体而言,先前的研究表明,原发性开角型青光眼(POAG)是最常见的疾病形式,在非洲血统人群中更为普遍、严重、早发和快速进展。最近的研究已经确定了可能导致这一人群疾病负担加重的遗传变异。特别是,线粒体遗传学已成为包括POAG在内的多种神经退行性疾病的深刻影响因素。已经提出了几种解释线粒体遗传对疾病进展的潜在机制的假说,包括核线粒体基因错配。在未被充分研究的非洲祖先人群中探索线粒体遗传学和疾病途径的基本原理可以在POAG的研究和临床理解方面取得突破性进展。本文讨论了目前已知的线粒体遗传因素在POAG中的作用,最近的研究方向,以及非洲人后裔线粒体遗传研究的潜在未来前景。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Paving the way while playing catch up: mitochondrial genetics in African ancestry primary open-angle glaucoma
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.
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